{"id":102844,"date":"2025-07-02T18:08:56","date_gmt":"2025-07-02T09:08:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=102844"},"modified":"2026-03-04T10:27:31","modified_gmt":"2026-03-04T01:27:31","slug":"lgmd2b-dysferlin-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/","title":{"rendered":"\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff08\u3057\u305f\u3044\u305f\u3044\u304c\u305f \u304d\u3093\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc \u306b\u30fc\u30d3\u30fc\u304c\u305f\uff09\u3010DYSF\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E5%AF%BE%E5%BF%9C%E7%AD%96\" >\u5bfe\u5fdc\u7b56<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E6%B2%BB%E7%99%82%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >\u5c06\u6765\u306e\u6cbb\u7642\u306e\u53ef\u80fd\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E4%BA%88%E5%BE%8C%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >\u4e88\u5f8c\u306e\u30dd\u30a4\u30f3\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <div>\n  <p>\n    \u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff08Limb-Girdle Muscular Dystrophy Type 2B\uff1aLGMD2B\uff09\u306f\u3001\u4e3b\u306b10\u4ee3\u301c30\u4ee3\u3067\u767a\u75c7\u3057\u3001\u5f90\u3005\u306b\u8170\u3084\u80a9\u307e\u308f\u308a\u306e\u7b4b\u8089\u304c\u5f31\u3063\u3066\u3044\u304f\u9032\u884c\u6027\u306e\u7b4b\u8089\u306e\u75c5\u6c17\u3067\u3059\u3002\u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304b\u3089\u59cb\u307e\u308b\u30bf\u30a4\u30d7\uff08\u30df\u30e8\u30b7\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u3082\u3042\u308a\u3001\u6b69\u884c\u3084\u968e\u6bb5\u306e\u6607\u308a\u964d\u308a\u306a\u3069\u306b\u652f\u969c\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\n  <\/p>\n  <p>\n    \u3053\u306e\u75c5\u6c17\u306f\u300cDYSF\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u3001\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u3068\u3044\u3046\u7b4b\u8089\u306e\u4fee\u5fa9\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u306e\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u4e0a\u6607\u3084\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u7b4b\u8089\u306e\u7d44\u7e54\u691c\u67fb\u306a\u3069\u304c\u8a3a\u65ad\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\n  <\/p>\n  <p>\n    \u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001LGMD2B\u306e\u75c7\u72b6\u3084\u539f\u56e0\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u73fe\u5728\u306e\u6cbb\u7642\u306e\u8003\u3048\u65b9\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u7814\u7a76\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u3054\u81ea\u8eab\u3084\u3054\u5bb6\u65cf\u306e\u75c7\u72b6\u306b\u3042\u3066\u306f\u307e\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u3068\u611f\u3058\u305f\u65b9\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u3067\u4e0d\u5b89\u306a\u65b9\u306b\u3082\u3001\u5c11\u3057\u3067\u3082\u5b89\u5fc3\u3068\u7406\u89e3\u3092\u6df1\u3081\u3066\u3044\u305f\u3060\u3051\u308b\u5185\u5bb9\u306b\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002\n  <\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>DYSF<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/DYSF-hgtIdeo_genome_asia_200dbe_48b3e0-1024x26.png\" alt=\"DYSF\" class=\"wp-image-102845\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001DYSF\uff08\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<br>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7b2c2\u67d3\u8272\u4f53\u77ed\u8155\u306e13.2\u756a\u5730\uff082p13.2\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DYSF\u907a\u4f1d\u5b50\u306f\u3001\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u3092\u4f5c\u308a\u51fa\u3057\u307e\u3059\u3002\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\uff08Dysferlin\uff09\u306f\u3001\u9aa8\u683c\u7b4b\uff08\u3053\u3063\u304b\u304f\u304d\u3093\uff1a\u81ea\u5206\u306e\u610f\u601d\u3067\u52d5\u304b\u3059\u7b4b\u8089\uff09\u3084\u5fc3\u7b4b\uff08\u3057\u3093\u304d\u3093\uff1a\u5fc3\u81d3\u306e\u7b4b\u8089\uff09\u306b\u591a\u304f\u5b58\u5728\u3059\u308b\u819c\u305f\u3093\u3071\u304f\u8cea\u3067\u3001\u7b4b\u8089\u7d30\u80de\u306e\u819c\uff08\u7b4b\u7d30\u80de\u819c\uff1asarcolemma\/\u30b5\u30eb\u30b3\u30ec\u30de\uff09\u304c\u50b7\u3064\u3044\u305f\u3068\u304d\u306b\u3001\u305d\u308c\u3092\u7d20\u65e9\u304f\u4fee\u5fa9\u3059\u308b\u305f\u3081\u306e\u91cd\u8981\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eDYSF\u907a\u4f1d\u5b50\u306b\u306f55\uff5e58\u500b\u306e\u30a8\u30af\u30bd\u30f3\uff08\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\uff09\u304c\u3042\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u7d44\u307f\u63db\u3048\uff08\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\uff09\u306b\u3088\u3063\u3066\u3001\u7d44\u7e54\u306b\u7279\u6709\u306a\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u306e\u578b\u304c\u4f5c\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u6b63\u5f0f\u540d\u79f0\u306f\u3001Limb-Girdle Muscular Dystrophy Type 2B\uff08\u30ea\u30e0\u30fb\u30ac\u30fc\u30c9\u30eb\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff09\u3067\u3059\u3002<br>\u65b0\u3057\u3044\u5206\u985e\u3067\u306f Limb-Girdle Muscular Dystrophy R2\uff08LGMD R2\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u8a9e\u3067\u306f\u300c\u80a2\u5e2f\u578b\uff08\u3057\u305f\u3044\u305f\u3044\u304c\u305f\uff09\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\u300d\u3068\u8a33\u3055\u308c\u3001\u7b4b\u8089\u306e\u59d4\u7e2e\u3068\u5f31\u308a\u304c\u3001\u9aa8\u76e4\u5e2f\u3084\u80a9\u306e\u307e\u308f\u308a\u306e\u7b4b\u8089\u304b\u3089\u59cb\u307e\u308b\u9032\u884c\u6027\u306e\u7b4b\u8089\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u7570\u5e38\u75c7\uff08Dysferlinopathy\/\u30c7\u30a3\u30b9\u30d5\u30a1\u30bd\u30d1\u30c1\u30fc\uff09\u3068\u3044\u3046\u5e83\u3044\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u306e\u4e00\u3064\u306b\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LGMD2B\u306f\u3001\u601d\u6625\u671f\u307e\u305f\u306f\u82e5\u3044\u6210\u4eba\u306e\u9803\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u9032\u884c\u6027\u306e\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u9032\u884c\u7684\u306b\u7b4b\u8089\u304c\u5f31\u3063\u3066\u3044\u304f\u75c5\u6c17\uff09\u3067\u3059\u3002<br>\u6700\u521d\u306b\u5f31\u304f\u306a\u308b\u306e\u306f\u3001\u592a\u3082\u3082\uff08\u5927\u817f\u90e8\uff09\u3084\u304a\u5c3b\u3001\u8170\u306e\u307e\u308f\u308a\uff08\u9aa8\u76e4\u5e2f\uff09\u306e\u7b4b\u8089\u3067\u3059\u3002\u6570\u5e74\u304b\u3051\u3066\u3001\u80a9\u306e\u7b4b\u8089\u3084\u4e0a\u8155\u90e8\u306e\u7b4b\u8089\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u7b4b\u8089\u306e\u50b7\u3092\u4fee\u5fa9\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u300c\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u300d\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u304c\u6b20\u3051\u3066\u3044\u305f\u308a\u3001\u3046\u307e\u304f\u50cd\u304b\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u7b4b\u8089\u7d30\u80de\u304c\u5c0f\u3055\u306a\u640d\u50b7\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u3067\u6b21\u7b2c\u306b\u58ca\u308c\u3066\u3044\u304d\u3001\u7b4b\u8089\u304c\u7d30\u304f\u3001\u5f31\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>LGMD2B\u306f\u3001\u540c\u3058\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u306e\u7570\u5e38\u304c\u539f\u56e0\u3068\u306a\u308b\u300c\u30df\u30e8\u30b7\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff08Miyoshi Myopathy\uff1aMMD\uff09\u300d\u3084\u300c\u524d\u811b\u9aa8\u7b4b\uff08\u305c\u3093\u3051\u3044\u3053\u3064\u304d\u3093\uff09\u512a\u4f4d\u306e\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff08DMAT\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75c5\u6c17\u3068\u5171\u901a\u306e\u907a\u4f1d\u7684\u80cc\u666f\u3092\u6301\u3061\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c5\u6c17\u3092\u307e\u3068\u3081\u3066\u3001\u300c\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u7570\u5e38\u75c7\uff08Dysferlinopathy\uff09\u300d\u3068\u7dcf\u79f0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/lgmdr1-calpainopathy-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc1\u578b\uff08LGMDR1\uff09\uff3b\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\u3001\u65e7\u540d\uff1aLGMD2A\uff3d\u3010CAPN3\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30bf\u30a4\u30d7R1\uff08LGMDR1\uff0f\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\uff09\u306b\u3064\u3044\u3066\u3001\u907a\u4f1d\u3084\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3092\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3066\u3044\u306d\u3044\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LGMD2B\u306f\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u5168\u4e16\u754c\u3067\u304a\u3088\u305d1\u4e07\u4eba\u304b\u308920\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u307f\u3089\u308c\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u96c6\u56e3\u3067\u306f\u3001\u7279\u5b9a\u306e\u5909\u7570\u304c\u591a\u304f\u898b\u3064\u304b\u3063\u3066\u304a\u308a\u3001\u907a\u4f1d\u7684\u306b\u304b\u304b\u308a\u3084\u3059\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ea\u30d3\u30a2\u7cfb\u30e6\u30c0\u30e4\u4eba\uff1a\u4fdd\u56e0\u8005\uff08\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u304c\u767a\u75c7\u3057\u3066\u3044\u306a\u3044\u4eba\uff09\u306e\u5272\u5408\u306f\u7d0410\uff05<\/li>\n\n\n\n<li>\u65e5\u672c\u4eba\uff1ac.2997G&gt;T\u3068\u3044\u3046\u5909\u7570\u304c\u4ee3\u8868\u7684<\/li>\n\n\n\n<li>\u30b9\u30da\u30a4\u30f3\u30fb\u30b9\u30a8\u30ab\u5730\u65b9\uff1ac.5713C&gt;T\u3068\u3044\u3046\u5909\u7570\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u30ab\u30b9\u30d4\u6d77\u5468\u8fba\u5730\u57df\u3084\u30a4\u30e9\u30f3\u3001\u30a8\u30b8\u30d7\u30c8\u306e\u4e00\u90e8\uff1a\u8840\u7e01\u5a5a\u304c\u591a\u304f\u3001\u767a\u75c7\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u3057\u305fDYSF\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u8d77\u3053\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u304f\u305f\u3044\u305b\u3093\u305b\u3044\u3044\u3067\u3093\uff09\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>DYSF\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u304c\u4f5c\u3089\u308c\u306a\u3044\u304b\u3001\u69cb\u9020\u304c\u7570\u5e38\u306b\u306a\u3063\u3066\u50cd\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7b4b\u8089\u7d30\u80de\u304c\u58ca\u308c\u305f\u3068\u304d\u306b\u4fee\u5fa9\u3067\u304d\u305a\u3001\u708e\u75c7\u3084\u7dda\u7dad\u5316\uff08\u3059\u3058\u3070\u3063\u305f\u786c\u3044\u7d44\u7e54\u3078\u306e\u5909\u5316\uff09\u3092\u8d77\u3053\u3057\u3066\u7b4b\u8089\u304c\u5931\u308f\u308c\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u898b\u3064\u304b\u3063\u3066\u3044\u308b\u5909\u7570\u306b\u306f\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u30a2\u30df\u30ce\u9178\u306e\u4e00\u90e8\u304c\u5909\u308f\u308b\uff09<\/li>\n\n\n\n<li>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff08\u305f\u3093\u3071\u304f\u8cea\u304c\u9014\u4e2d\u3067\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u8aad\u307f\u53d6\u308a\u304c\u305a\u308c\u308b\uff09<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u3064\u306a\u304e\u65b9\u304c\u72c2\u3046\uff09<\/li>\n\n\n\n<li>\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\uff08\u8aad\u307f\u53d6\u308a\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5185\u90e8\u306e\u7570\u5e38\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4ee3\u8868\u7684\u306a\u75c7\u72b6<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u592a\u3082\u3082\u3084\u304a\u5c3b\u3001\u8170\u56de\u308a\u306e\u7b4b\u8089\u304c\u3060\u3093\u3060\u3093\u5f31\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u968e\u6bb5\u306e\u4e0a\u308a\u4e0b\u308a\u304c\u3064\u3089\u3044\u3001\u3057\u3083\u304c\u3080\u30fb\u7acb\u3061\u4e0a\u304c\u308b\u306e\u304c\u96e3\u3057\u3044<\/li>\n\n\n\n<li>\u80a9\u3084\u8155\u3082\u6570\u5e74\u3067\u5f31\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u8db3\u306e\u3075\u304f\u3089\u306f\u304e\u304c\u7d30\u304f\u306a\u308b\uff08\u9060\u4f4d\u7b4b\u306e\u840e\u7e2e\uff09<\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u306e\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u304c\u975e\u5e38\u306b\u9ad8\u5024\u306b\u306a\u308b\uff08\u3057\u3070\u3057\u307010\u500d\u4ee5\u4e0a\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u9032\u884c\u306e\u7279\u5fb4<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3086\u3063\u304f\u308a\u3068\u9032\u884c\u3059\u308b<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u4eba\u306f\u9577\u5e74\u306b\u308f\u305f\u308a\u6b69\u884c\u53ef\u80fd<\/li>\n\n\n\n<li>\u547c\u5438\u7b4b\u304c\u5f31\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u304c\u3001\u5fc3\u81d3\u306e\u969c\u5bb3\u306f\u307e\u308c<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u7a00\u306a\u75c7\u72b6\u30fb\u5225\u578b<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u524d\u811b\u9aa8\u7b4b\uff08\u3059\u306d\u524d\u5074\uff09\u304b\u3089\u59cb\u307e\u308b\u7b4b\u529b\u4f4e\u4e0b\uff08DMAT\uff09<\/li>\n\n\n\n<li>CK\u304c\u9ad8\u3044\u3060\u3051\u3067\u75c7\u72b6\u304c\u306a\u3044\uff08\u9ad8CK\u8840\u75c7\uff09<\/li>\n\n\n\n<li>\u5e7c\u5150\u671f\u304b\u3089\u7b4b\u7dca\u5f35\u304c\u5f31\u3044\uff08\u5148\u5929\u578b\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306e\u624b\u9806\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u554f\u8a3a\u3068\u8eab\u4f53\u691c\u67fb<br>\u3000\u7b4b\u529b\u306e\u5de6\u53f3\u5dee\u3001\u6b69\u884c\u3001\u7acb\u3061\u4e0a\u304c\u308a\u3001\u8155\u306e\u52d5\u304b\u3057\u3084\u3059\u3055\u306a\u3069\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8840\u6db2\u691c\u67fb<br>\u3000CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\uff1a\u7b4b\u8089\u306e\u7834\u58ca\u3067\u8840\u4e2d\u306b\u5897\u3048\u308b\u9175\u7d20\u3002LGMD2B\u3067\u306f\u975e\u5e38\u306b\u9ad8\u5024\uff08\u6570\u5343\u301c1\u4e07\u5358\u4f4d\u4ee5\u4e0a\uff09\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u96fb\u56f3\uff08EMG\uff09<br>\u3000\u7b4b\u8089\u306e\u96fb\u6c17\u7684\u306a\u53cd\u5fdc\u3092\u8abf\u3079\u307e\u3059\u3002LGMD2B\u3067\u306f\u300c\u7b4b\u539f\u6027\u306e\u7570\u5e38\uff08myopathic changes\uff09\u300d\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u8089\u306e\u753b\u50cf\u691c\u67fb\uff08MRI\u3084CT\uff09<br>\u3000\u8102\u80aa\u3078\u306e\u7f6e\u304d\u63db\u308f\u308a\uff08\u7b4b\u8089\u306e\u840e\u7e2e\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u8089\u751f\u691c\uff08\u30d0\u30a4\u30aa\u30d7\u30b7\u30fc\uff09<br>\u3000\u7b4b\u8089\u306e\u4e00\u90e8\u3092\u63a1\u53d6\u3057\u3066\u3001\u9855\u5fae\u93e1\u3067\u78ba\u8a8d\u3002\u4ee5\u4e0b\u306e\u6240\u898b\u304c\u898b\u3089\u308c\u307e\u3059\uff1a<br>\u3000- \u7b4b\u7dda\u7dad\u306e\u58ca\u6b7b\u3068\u518d\u751f<br>\u3000- \u7b4b\u7dda\u7dad\u306e\u6838\u306e\u7570\u5e38\u306a\u4f4d\u7f6e\uff08\u4e2d\u5fc3\u6838\uff09<br>\u3000- \u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u306e\u67d3\u8272\u6b20\u640d\uff08\u514d\u75ab\u67d3\u8272\uff09<br>\u3000- \u7dda\u7dad\u5316\u3084\u7b4b\u7dda\u7dad\u306e\u4e0d\u5747\u4e00\u6027<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb<br>\u3000\u6700\u3082\u78ba\u5b9f\u306a\u8a3a\u65ad\u6cd5\u3067\u3059\u3002DYSF\u907a\u4f1d\u5b50\u306b\u4e21\u65b9\u306e\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u6700\u8fd1\u3067\u306f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u304c\u4e3b\u6d41\u3067\u3001\u591a\u6570\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u89e3\u6790\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u203b\u6ce8\u610f\u70b9\uff1a\u3053\u306e\u75c5\u6c17\u306f\u3001\u591a\u767a\u7b4b\u708e\uff08polymyositis\uff1a\u81ea\u5df1\u514d\u75ab\u6027\u306e\u7b4b\u708e\uff09\u3068\u8aa4\u8a3a\u3055\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u6cbb\u7642\u306f\u7121\u52b9\u3067\u3001\u9006\u306b\u60aa\u5316\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306b\u306f\u514d\u75ab\u67d3\u8272\u30fbWestern blot\uff08\u305f\u3093\u3071\u304f\u8cea\u306e\u691c\u51fa\uff09\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xlhypohidrotic-ectodermal-dysplasia\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">X\u9023\u9396\u6027\u4f4e\u6c57\u6027\u5916\u80da\u8449\u7570\u5f62\u6210\u3010EDA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001LGMD2B\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\uff08\u6cbb\u3059\u6cbb\u7642\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<br>\u3057\u304b\u3057\u3001\u9032\u884c\u3092\u9045\u3089\u305b\u3001\u751f\u6d3b\u306e\u8cea\u3092\u7dad\u6301\u3059\u308b\u30b5\u30dd\u30fc\u30c8\u306f\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BE%E5%BF%9C%E7%AD%96\"><\/span>\u5bfe\u5fdc\u7b56<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u30fb\u30ea\u30cf\u30d3\u30ea\uff1a\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u3084\u7b4b\u529b\u3092\u4fdd\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u88dc\u88c5\u5177\u30fb\u8eca\u6905\u5b50\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u30b5\u30dd\u30fc\u30c8\uff1a\u591c\u9593\u306e\u63db\u6c17\u88dc\u52a9\uff08NIPPV\uff09\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u7406\u793e\u4f1a\u7684\u652f\u63f4\uff1a\u672c\u4eba\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4f53\u91cd\u7ba1\u7406\uff1a\u904e\u4f53\u91cd\u306b\u306a\u308b\u3068\u7b4b\u8089\u3078\u306e\u8ca0\u62c5\u304c\u5897\u3059\u305f\u3081\u3001\u80a5\u6e80\u3092\u907f\u3051\u308b\u3088\u3046\u6307\u5c0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E6%B2%BB%E7%99%82%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span>\u5c06\u6765\u306e\u6cbb\u7642\u306e\u53ef\u80fd\u6027<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09\uff1aAAV\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u6cbb\u7642\u304c\u958b\u767a\u4e2d<br>\u3000\uff08\u4f8b\uff1aSRP-6004\u3001rAAVrh74.MHCK7.DYSF.DV\uff09<\/li>\n\n\n\n<li>\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\u6cbb\u7642\uff08Antisense Oligonucleotide, AO\uff09\uff1a\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u7570\u5e38\u3092\u4fee\u5fa9<\/li>\n\n\n\n<li>CRISPR\/Cas9 \u907a\u4f1d\u5b50\u7de8\u96c6\uff1a\u7279\u5b9a\u5909\u7570\u306e\u4fee\u6b63\u3092\u8a66\u307f\u308b\u7814\u7a76\u304c\u9032\u884c\u4e2d<\/li>\n\n\n\n<li>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u306b\u5bfe\u3059\u308b\u8aad\u307f\u98db\u3070\u3057\u85ac\uff1aAtaluren\u306a\u3069<\/li>\n\n\n\n<li>\u305f\u3093\u3071\u304f\u8cea\u6a5f\u80fd\u306e\u6539\u5584\u3092\u72d9\u3046\u85ac\u5264\uff1a4-\u30d5\u30a7\u30cb\u30eb\u916a\u9178\uff084-PBA\uff09\u306a\u3069\u306e\u8a66\u9a13<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LGMD2B\u306f\u9032\u884c\u6027\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u9032\u884c\u306f\u3086\u3063\u304f\u308a\u3067\u3001\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u308a\u65e5\u5e38\u751f\u6d3b\u3092\u9577\u304f\u7dad\u6301\u3067\u304d\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span>\u4e88\u5f8c\u306e\u30dd\u30a4\u30f3\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u6642\u671f\u304c10\u4ee3\u5f8c\u534a\uff5e20\u4ee3\u304c\u591a\u304f\u300110\u5e74\u4ee5\u4e0a\u6b69\u884c\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u8089\u306e\u6b8b\u5b58\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u91cf\u304c10\uff05\u4ee5\u4e0b\u3067\u3042\u3063\u3066\u3082\u3001\u75c7\u72b6\u306e\u5f37\u3055\u3068\u306f\u5fc5\u305a\u3057\u3082\u4e00\u81f4\u3057\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u7684\u306a\u8981\u56e0\u4ee5\u5916\u306b\u3082\u3001\u751f\u6d3b\u74b0\u5883\u3084\u904b\u52d5\u306e\u5f71\u97ff\u3001\u307b\u304b\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u95a2\u4fc2\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u614e\u91cd\u306a\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u5fc3\u81d3\u969c\u5bb3\u306f\u307e\u308c\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong> \u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u53d6\u3063\u305f\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u907a\u4f1d\u306e\u3057\u304b\u305f\u3067\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306e\u907a\u4f1d\u3067\u306f\u3001\u4e21\u89aa\u304c\u5065\u5eb7\u3067\u3082\u3001\u5b50\u3069\u3082\u304c\u75c5\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4fdd\u56e0\u8005\uff08\u307b\u3044\u3093\u3057\u3083\uff09\u306f\u75c7\u72b6\u304c\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c5\u6c17\u3092\u4f1d\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3001\u305f\u3093\u3071\u304f\u8cea\u3092\u3064\u304f\u308b\u305f\u3081\u306e\u60c5\u5831\u304c\u66f8\u304b\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u60c5\u5831\u306b\u3088\u3063\u3066\u3001\u4f53\u306e\u4e2d\u306e\u3055\u307e\u3056\u307e\u306a\u50cd\u304d\u304c\u4fdd\u305f\u308c\u3066\u3044\u307e\u3059\u3002DYSF\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5909\u7570\uff08Mutation\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3001\u901a\u5e38\u3068\u306f\u9055\u3046\u60c5\u5831\u306e\u4e26\u3073\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u305f\u3093\u3071\u304f\u8cea\u304c\u672c\u6765\u306e\u306f\u305f\u3089\u304d\u3092\u3057\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u203b\u300c\u7570\u5e38\u300d\u3084\u300c\u9593\u9055\u3044\u300d\u3068\u3044\u3046\u610f\u5473\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\uff08Dysferlin\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u306e\u7d30\u80de\u819c\uff08\u3055\u3044\u307c\u3046\u307e\u304f\uff09\u3092\u4fee\u5fa9\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u3067\u3059\u3002\u3053\u308c\u304c\u5341\u5206\u306b\u306a\u3044\u3068\u3001\u7b4b\u8089\u304c\u50b7\u3064\u3044\u305f\u307e\u307e\u306b\u306a\u308a\u3001\u5c11\u3057\u305a\u3064\u5f31\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Muscular Dystrophy\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u304c\u3060\u3093\u3060\u3093\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002\u9032\u884c\u306e\u901f\u3055\u3084\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3086\u3063\u304f\u308a\u9032\u3080\u30bf\u30a4\u30d7\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Limb-Girdle Muscular Dystrophy\uff09<\/strong><strong><br><\/strong> \u8170\u3084\u80a9\u306e\u307e\u308f\u308a\uff08\u9aa8\u76e4\u5e2f\u3084\u80a9\u7532\u5e2f\uff09\u306e\u7b4b\u8089\u304c\u3001\u3086\u3063\u304f\u308a\u3068\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u4e00\u7a2e\u3067\u3059\u3002\u6b69\u304f\u3001\u7acb\u3061\u4e0a\u304c\u308b\u3001\u7269\u3092\u6301\u3061\u4e0a\u3052\u308b\u306a\u3069\u3001\u65e5\u5e38\u306e\u52d5\u4f5c\u304c\u5c11\u3057\u305a\u3064\u96e3\u3057\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9032\u307f\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7b4b\u840e\u7e2e\uff08Muscle Atrophy\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u305d\u306e\u3082\u306e\u304c\u7d30\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u306e\u3053\u3068\u3067\u3059\u3002\u4f7f\u308f\u308c\u306a\u3044\u3053\u3068\u3084\u75c5\u6c17\u306e\u5f71\u97ff\u3067\u3001\u7b4b\u8089\u306e\u91cf\u304c\u5c11\u3057\u305a\u3064\u6e1b\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5916\u898b\u7684\u306b\u3082\u300c\u7d30\u304f\u306a\u3063\u305f\u300d\u3068\u611f\u3058\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7b4b\u529b\u4f4e\u4e0b\uff08Muscle Weakness\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u306b\u5341\u5206\u306a\u529b\u304c\u5165\u3089\u306a\u304f\u306a\u3063\u3066\u3044\u304f\u72b6\u614b\u3067\u3059\u3002\u7b4b\u8089\u306f\u898b\u305f\u76ee\u3067\u306f\u5909\u308f\u3089\u306a\u304f\u3066\u3082\u3001\u75b2\u308c\u3084\u3059\u304f\u306a\u3063\u305f\u308a\u3001\u6301\u3061\u4e0a\u3052\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75c5\u6c17\u306e\u9032\u307f\u65b9\u3084\u611f\u3058\u65b9\u306b\u306f\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08Creatine Kinase, CK\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u304c\u50b7\u3064\u3044\u305f\u3068\u304d\u306b\u8840\u6db2\u4e2d\u306b\u51fa\u3066\u304f\u308b\u9175\u7d20\uff08\u3053\u3046\u305d\uff09\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u8abf\u3079\u3089\u308c\u3001\u6570\u5024\u304c\u9ad8\u3044\u3068\u3001\u7b4b\u8089\u306b\u8ca0\u62c5\u3084\u3053\u308f\u308c\u3084\u3059\u3055\u304c\u3042\u308b\u53ef\u80fd\u6027\u3092\u793a\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u306f\u8907\u6570\u3042\u308b\u6307\u6a19\uff08\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\uff09\u306e\u3072\u3068\u3064\u3067\u3042\u308a\u3001\u6700\u7d42\u7684\u306a\u8a3a\u65ad\u306b\u306f\u4ed6\u306e\u691c\u67fb\u3082\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7b4b\u96fb\u56f3\uff08Electromyography, EMG\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u304c\u96fb\u6c17\u306e\u4fe1\u53f7\u306b\u3069\u3046\u53cd\u5fdc\u3059\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u795e\u7d4c\u3084\u7b4b\u8089\u306b\u554f\u984c\u304c\u3042\u308b\u304b\u3092\u898b\u304d\u308f\u3081\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u5c11\u3057\u75db\u307f\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u77ed\u6642\u9593\u3067\u7d42\u308f\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7b4b\u8089\u751f\u691c\uff08Muscle Biopsy\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u306e\u4e00\u90e8\u3092\u307b\u3093\u306e\u5c11\u3057\u3060\u3051\u63a1\u53d6\u3057\u3066\u3001\u9855\u5fae\u93e1\u3067\u304f\u308f\u3057\u304f\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u7b4b\u8089\u306e\u72b6\u614b\u3084\u3001\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5b89\u5168\u306b\u884c\u308f\u308c\u308b\u691c\u67fb\u3067\u3001\u8a3a\u65ad\u306b\u3068\u3066\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u514d\u75ab\u67d3\u8272\uff08Immunohistochemistry, IHC\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u306e\u7d44\u7e54\u306b\u7279\u5b9a\u306e\u8272\u3092\u3064\u3051\u3066\u3001\u305f\u3093\u3071\u304f\u8cea\u304c\u5b58\u5728\u3059\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u65b9\u6cd5\u3067\u3059\u3002\u7b4b\u8089\u751f\u691c\u3067\u4f7f\u308f\u308c\u3001\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>Western blot\uff08\u30a6\u30a8\u30b9\u30bf\u30f3\u30d6\u30ed\u30c3\u30c8\uff09<\/strong><strong><br><\/strong> \u305f\u3093\u3071\u304f\u8cea\u306e\u91cf\u3084\u5927\u304d\u3055\u3092\u304f\u308f\u3057\u304f\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u514d\u75ab\u67d3\u8272\u3068\u7d44\u307f\u5408\u308f\u305b\u3066\u3001\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u304c\u3069\u308c\u304f\u3089\u3044\u3042\u308b\u304b\u3001\u304d\u3061\u3093\u3068\u4f5c\u3089\u308c\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u6b63\u78ba\u306a\u8a3a\u65ad\u306b\u3068\u3066\u3082\u5f79\u7acb\u3064\u65b9\u6cd5\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08Next-Generation Sequencing, NGS\uff09<\/strong><strong><br><\/strong> \u305f\u304f\u3055\u3093\u306e\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3001\u4eca\u3067\u306f\u5e83\u304f\u4f7f\u308f\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u65b9\u6cd5\u3067\u3059\u3002\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u300c\u5909\u7570\uff08\u3078\u3093\u3044\uff09\u300d\u3092\u898b\u3064\u3051\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u6280\u8853\u306f\u5c11\u3057\u305a\u3064\u9032\u5316\u3057\u3066\u304a\u308a\u3001\u3088\u308a\u6b63\u78ba\u3067\u65e9\u3044\u8a3a\u65ad\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08Rehabilitation\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u3084\u95a2\u7bc0\u3092\u3067\u304d\u308b\u3060\u3051\u9577\u304f\u4f7f\u3048\u308b\u3088\u3046\u306b\u3059\u308b\u305f\u3081\u306e\u904b\u52d5\u3084\u65e5\u5e38\u306e\u7df4\u7fd2\u3067\u3059\u3002\u7121\u7406\u306e\u306a\u3044\u7bc4\u56f2\u3067\u53d6\u308a\u7d44\u3080\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u81ea\u7acb\u3084\u5feb\u9069\u3055\u3092\u4fdd\u3064\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u88dc\u88c5\u5177\uff08Orthotic Devices\uff09<\/strong><strong><br><\/strong> \u6b69\u884c\u3092\u52a9\u3051\u308b\u6756\u3084\u88c5\u5177\u3001\u8db3\u3084\u624b\u306e\u52d5\u304d\u3092\u652f\u3048\u308b\u9053\u5177\u306e\u3053\u3068\u3067\u3059\u3002\u4f53\u306e\u8ca0\u62c5\u3092\u6e1b\u3089\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u5c11\u3057\u3067\u3082\u697d\u306b\u3059\u308b\u305f\u3081\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u9078\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff08Genetic Counseling\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u304c\u3069\u306e\u3088\u3046\u306b\u907a\u4f1d\u3059\u308b\u304b\u3001\u5bb6\u65cf\u306e\u4e2d\u3067\u3069\u3046\u95a2\u308f\u308b\u304b\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u306e\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u4e00\u7dd2\u306b\u8003\u3048\u308b\u6a5f\u4f1a\u3067\u3059\u3002\u4e0d\u5b89\u306a\u6c17\u6301\u3061\u3084\u3001\u5c06\u6765\u306e\u598a\u5a20\u30fb\u51fa\u7523\u306b\u95a2\u3059\u308b\u3054\u76f8\u8ac7\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u3092\u52a9\u3051\u308b\u60c5\u5831\u3092\u4f53\u306b\u5c4a\u3051\u3066\u3001\u75c5\u6c17\u3092\u6539\u5584\u3057\u3088\u3046\u3068\u3059\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u73fe\u5728\u306f\u7814\u7a76\u3084\u81e8\u5e8a\u8a66\u9a13\u306e\u6bb5\u968e\u3067\u3059\u304c\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\u6cbb\u7642\uff08Antisense Oligonucleotide Therapy\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u8aad\u307f\u53d6\u308a\u306b\u4e71\u308c\u304c\u3042\u308b\u3068\u304d\u3001\u305d\u306e\u60c5\u5831\u3092\u6574\u3048\u308b\u3088\u3046\u306b\u50cd\u304f\u85ac\u3092\u4f7f\u3046\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306b\u3082\u5c06\u6765\u7684\u306b\u4f7f\u308f\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30df\u30e8\u30b7\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff08Miyoshi Myopathy\uff09<\/strong><strong><br><\/strong> \u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u306e\u3072\u3068\u3064\u3067\u3001\u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304b\u3089\u5f31\u304f\u306a\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002LGMD2B\u3068\u540c\u3058DYSF\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1303\/\">Aoki M, Takahashi T. Dysferlinopathy. 2004 Feb 5 [Updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1303\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms25115572\">Poudel, Bal Hari, et al. \u2018Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities\u2019. International Journal of Molecular Sciences, vol. 25, no. 11, May 2024, p. 5572. DOI.org (Crossref), https:\/\/doi.org\/10.3390\/ijms25115572.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.jns.2018.10.015\">Okubo, Mariko, et al. \u2018Three Novel Recessive DYSF Mutations Identified in Three Patients with Muscular Dystrophy, Limb-Girdle, Type 2B\u2019. Journal of the Neurological Sciences, vol. 395, Dec. 2018, pp. 169\u201371. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.jns.2018.10.015.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4103\/abr.abr_131_22\">Arab, Fatemeh, et al. \u2018Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) Caused by Pathogenic Splice and Missense Variants of DYSF Gene Among Iranians with Muscular Dystrophy\u2019. Advanced Biomedical Research, vol. 12, no. 1, Jun. 2023. DOI.org (Crossref), https:\/\/doi.org\/10.4103\/abr.abr_131_22.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/MD.0000000000010539\">Xu, Chuan, et al. \u2018Limb-Girdle Muscular Dystrophy Type 2B Misdiagnosed as Polymyositis at the Early Stage: Case Report and Literature Review\u2019. Medicine, vol. 97, no. 21, May 2018, p. e10539. DOI.org (Crossref), https:\/\/doi.org\/10.1097\/MD.0000000000010539.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.gmg.2024.100035\">Mathur, Priyanshu, et al. \u2018Limb-Girdle Muscular Dystrophies (LGMD): Clinical Features, Diagnosis and Genetic Variability through next Generation Sequencing\u2019. Global Medical Genetics, vol. 12, no. 1, Mar. 2025, p. 100035. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.gmg.2024.100035.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/jcm12144769\">Bouchard, Camille, and Jacques P. Tremblay. \u2018Limb\u2013Girdle Muscular Dystrophies Classification and Therapies\u2019. Journal of Clinical Medicine, vol. 12, no. 14, Jul. 2023, p. 4769. DOI.org (Crossref), https:\/\/doi.org\/10.3390\/jcm12144769.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>Limb-Girdle Muscular Dystrophy Type 2B, LGMD2B, DYSF, Dysferlin, \u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\u7570\u5e38\u75c7, \u9aa8\u683c\u7b4b, \u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc, CK\u9ad8\u5024, \u7b4b\u539f\u6027\u75be\u60a3, \u591a\u767a\u7b4b\u708e\u3068\u306e\u9451\u5225, \u30b9\u30d7\u30e9\u30a4\u30b9\u7570\u5e38, \u907a\u4f1d\u5b50\u691c\u67fb, \u7b4b\u96fb\u56f3, \u514d\u75ab\u67d3\u8272, Western blot, \u30ea\u30cf\u30d3\u30ea, Gene Therapy, Antisense Oligonucleotide, AAV\u30d9\u30af\u30bf\u30fc, CRISPR, \u30b9\u30d7\u30e9\u30a4\u30b9\u4fee\u5fa9<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmd2b-dysferlin-overview\",\n      \"name\": \"\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\u3068DYSF\u907a\u4f1d\u5b50\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"inLanguage\": \"ja\",\n      \"isPartOf\": {\n        \"@type\": \"Website\",\n        \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\"\n      },\n      \"about\": {\n        \"@id\": \"#LGMD2B\"\n      }\n    },\n    {\n      \"@type\": \"Article\",\n      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 \"headline\": \"Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities\",\n      \"name\": \"Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities\",\n      \"author\": [\n        { \"@type\": \"Person\", \"name\": \"Poudel, Bal Hari\" }\n      ],\n      \"datePublished\": \"2024-05\",\n      \"url\": \"https:\/\/doi.org\/10.3390\/ijms25115572\",\n      \"isPartOf\": {\n        \"@type\": \"PublicationVolume\",\n        \"name\": \"International Journal of Molecular Sciences\",\n        \"volumeNumber\": \"25\",\n        \"issueNumber\": \"11\"\n      }\n    },\n    {\n      \"@type\": \"ScholarlyArticle\",\n      \"headline\": \"Three Novel Recessive DYSF Mutations Identified in Three Patients with Muscular Dystrophy, Limb-Girdle, Type 2B\",\n      \"name\": \"Three Novel Recessive DYSF Mutations Identified in Three Patients with Muscular Dystrophy, Limb-Girdle, Type 2B\",\n      \"author\": [\n        { \"@type\": 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