{"id":101405,"date":"2025-06-16T15:32:17","date_gmt":"2025-06-16T06:32:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101405"},"modified":"2026-03-04T11:41:50","modified_gmt":"2026-03-04T02:41:50","slug":"lgmdr1-calpainopathy-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/","title":{"rendered":"\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"},"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: 1.7; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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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\/lgmdr1-calpainopathy-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\/lgmdr1-calpainopathy-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\/lgmdr1-calpainopathy-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\/lgmdr1-calpainopathy-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\/lgmdr1-calpainopathy-overview\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#%E7%A8%80%E3%81%AA%E7%97%87%E7%8A%B6\" >\u7a00\u306a\u75c7\u72b6<\/a><\/li><\/ul><\/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\/lgmdr1-calpainopathy-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><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\/lgmdr1-calpainopathy-overview\/#1_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\" >1. \u8840\u6db2\u691c\u67fb<\/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\/lgmdr1-calpainopathy-overview\/#2_%E7%AD%8B%E9%9B%BB%E5%9B%B3%EF%BC%88EMG%EF%BC%89\" >2. \u7b4b\u96fb\u56f3\uff08EMG\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%AD%8B%E8%82%89MRI%EF%BC%89\" >3. \u753b\u50cf\u691c\u67fb\uff08\u7b4b\u8089MRI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#4_%E7%AD%8B%E7%94%9F%E6%A4%9C%EF%BC%88%E7%AD%8B%E8%82%89%E7%B5%84%E7%B9%94%E3%81%AE%E6%A4%9C%E6%9F%BB%EF%BC%89\" >4. \u7b4b\u751f\u691c\uff08\u7b4b\u8089\u7d44\u7e54\u306e\u691c\u67fb\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#5_%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E8%A7%A3%E6%9E%90%EF%BC%88%E5%85%8D%E7%96%AB%E6%9F%93%E8%89%B2%E3%83%BB%E3%82%A6%E3%82%A8%E3%82%B9%E3%82%BF%E3%83%B3%E3%83%96%E3%83%AD%E3%83%83%E3%83%88%EF%BC%89\" >5. \u30bf\u30f3\u30d1\u30af\u8cea\u89e3\u6790\uff08\u514d\u75ab\u67d3\u8272\u30fb\u30a6\u30a8\u30b9\u30bf\u30f3\u30d6\u30ed\u30c3\u30c8\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#6_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >6. \u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#7_%E6%96%B0%E3%81%9F%E3%81%AA%E8%A8%BA%E6%96%AD%E6%8A%80%E8%A1%93\" >7. \u65b0\u305f\u306a\u8a3a\u65ad\u6280\u8853<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#%E7%8F%BE%E6%99%82%E7%82%B9%E3%81%A7%E3%81%AE%E6%B2%BB%E7%99%82%E6%96%B9%E9%87%9D\" >\u73fe\u6642\u70b9\u3067\u306e\u6cbb\u7642\u65b9\u91dd<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#1_%E7%90%86%E5%AD%A6%E7%99%82%E6%B3%95%E3%83%BB%E9%81%8B%E5%8B%95%E7%99%82%E6%B3%95\" >1. \u7406\u5b66\u7642\u6cd5\u30fb\u904b\u52d5\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#2_%E8%A3%85%E5%85%B7%E3%83%BB%E8%A3%9C%E5%8A%A9%E5%85%B7\" >2. \u88c5\u5177\u30fb\u88dc\u52a9\u5177<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#3_%E5%91%BC%E5%90%B8%E3%83%BB%E5%BF%83%E6%A9%9F%E8%83%BD%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >3. \u547c\u5438\u30fb\u5fc3\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#4_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95%EF%BC%88%E7%A0%94%E7%A9%B6%E6%AE%B5%E9%9A%8E%EF%BC%89\" >4. \u85ac\u7269\u7642\u6cd5\uff08\u7814\u7a76\u6bb5\u968e\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#5_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%88%E9%96%8B%E7%99%BA%E4%B8%AD%EF%BC%89\" >5. \u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u958b\u767a\u4e2d\uff09<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/#%E5%B9%B3%E5%9D%87%E7%9A%84%E3%81%AA%E7%B5%8C%E9%81%8E\" >\u5e73\u5747\u7684\u306a\u7d4c\u904e<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-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;\"><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-top: 0; font-size: 1rem; color: #444;\">\n    \u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001<strong>\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<\/strong>\u3068\u3044\u3046\u75c5\u6c17\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u304f\u3001\u3066\u3044\u306d\u3044\u306b\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<br><br>\n    \u907a\u4f1d\u5b50\uff08CAPN3\uff09\u306e\u306f\u305f\u3089\u304d\u3001\u75c5\u6c17\u306e\u75c7\u72b6\u3001\u691c\u67fb\u306e\u5185\u5bb9\u3001\u6cbb\u7642\u306e\u8003\u3048\u65b9\u307e\u3067\u3001\u3067\u304d\u308b\u3060\u3051\u5c02\u9580\u7528\u8a9e\u3092\u4f7f\u308f\u305a\u306b\u308f\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<br><br>\n    \u3054\u81ea\u8eab\u3084\u3054\u5bb6\u65cf\u304c\u3053\u306e\u75c5\u6c17\u304b\u3082\u3057\u308c\u306a\u3044\u3068\u611f\u3058\u3066\u3044\u308b\u65b9\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u3067\u4e0d\u5b89\u306a\u65b9\u306b\u3082\u3001\u5b89\u5fc3\u3057\u3066\u8aad\u3093\u3067\u3044\u305f\u3060\u3051\u308b\u5185\u5bb9\u3067\u3059\u3002\n  <\/p>\n\n  <div style=\"border: 1px solid #d9e0e7; padding: 1.25rem; background-color: #f5f9fc; border-radius: 8px; margin-top: 2rem;\">\n    <strong style=\"font-size: 1.05rem;\">\ud83d\udd04 \u75c5\u540d\u306e\u8868\u8a18\u306b\u3064\u3044\u3066\uff08\u65e7\u79f0\u3068\u65b0\u5206\u985e\uff09<\/strong><br><br>\n    \u3053\u306e\u75c5\u6c17\u306f\u3001\u4ee5\u524d\u306f\u300c<strong>\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2A\u578b\uff08LGMD2A; Limb-Girdle Muscular Dystrophy, Type 2A\uff09<\/strong>\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001<br>\n    2017\u5e74\u306b\u56fd\u969b\u7684\u306a\u5206\u985e\u304c\u898b\u76f4\u3055\u308c\u3001\u73fe\u5728\u306f\u300c<strong>\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc1\u578b\uff08LGMDR1; Limb-Girdle Muscular Dystrophy, Recessive 1\uff09<\/strong>\u300d\u3068\u8868\u8a18\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<br><br>\n    \u300cR\u300d\u306f <em>Recessive\uff08\u6f5c\u6027\u907a\u4f1d\uff09<\/em> \u3092\u610f\u5473\u3057\u3001\u907a\u4f1d\u306e\u3057\u304b\u305f\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u8868\u3057\u3066\u3044\u307e\u3059\u3002<br><br>\n    \u533b\u7642\u6a5f\u95a2\u3084\u6587\u732e\u3067\u306f\u3001\u3069\u3061\u3089\u306e\u547c\u3073\u65b9\u3082\u898b\u304b\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u540c\u3058\u75c5\u6c17\u3092\u6307\u3057\u3066\u3044\u307e\u3059<\/strong>\u306e\u3067\u3054\u5b89\u5fc3\u304f\u3060\u3055\u3044\u3002\n  <\/div>\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>CAPN3<\/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\/06\/CAPN3-hgtIdeo_genome_asia_2ff8b_f90c50-1024x26.png\" alt=\"\" class=\"wp-image-101406\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CAPN3\uff08\u30ab\u30ea\u30d1\u30a4\u30f33\uff09 \u907a\u4f1d\u5b50\u306f\u3001\u7b4b\u8089\u306e\u7d30\u80de\u306b\u7279\u7570\u7684\u306b\u767a\u73fe\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u306e\u5f79\u5272\u3092\u3082\u3064\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e15\u756a\u67d3\u8272\u4f53\u306e 15q15.1 \u3068\u3044\u3046\u4f4d\u7f6e\u306b\u3042\u308a\u307e\u3059\uff08\u5869\u57fa\u914d\u5217\u4e0a\u306e\u4f4d\u7f6e\u306f\u3001chr15:42359501\u201342412317\uff09\u3002\u5927\u304d\u3055\u306f 52,817\u5869\u57fa\u5bfe\uff08\u30d9\u30fc\u30b9\u30da\u30a2\uff09 \u3067\u3059\u3002<\/p>\n\n\n\n<p>CAPN3\u304c\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u300c\u30ab\u30eb\u30b7\u30a6\u30e0\u4f9d\u5b58\u6027\u30b7\u30b9\u30c6\u30a4\u30f3\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\uff08calcium-dependent cysteine protease\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a2e\u985e\u306e\u9175\u7d20\u3067\u3001\u7b4b\u8089\u306e\u4e2d\u3067\u53e4\u304f\u306a\u3063\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5206\u89e3\u3057\u3001\u7b4b\u8089\u3092\u4fdd\u3064\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u7b4b\u8089\u306e\u69cb\u9020\u3092\u5b89\u5b9a\u3055\u305b\u308b\u30b5\u30eb\u30b3\u30e1\u30a2\uff08sarcomere\uff09\u3068\u3044\u3046\u5358\u4f4d\u306e\u7dad\u6301\u306b\u3082\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u3042\u308b\u3068\u3001\u7b4b\u8089\u304c\u3046\u307e\u304f\u4fee\u5fa9\u3055\u308c\u305a\u3001\u3060\u3093\u3060\u3093\u3068\u5f31\u304f\u306a\u308b\u300c\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08muscular dystrophy\uff09\u300d\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\u3092\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5225\u540d\u30fb\u540c\u7fa9\u8a9e\uff1a CANP3\u3001p94\u3001nCL-1\u3001LGMDR1\uff08LGMD Recessive type 1\uff09\u3001LGMD2A\uff08\u5f93\u6765\u306e\u5206\u985e\uff09<\/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>\u300cLimb-Girdle Muscular Dystrophy Type R1\uff08LGMD R1\uff0f\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\uff09\u300d<br>\u65e5\u672c\u8a9e\u3067\u306f\u300c\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30bf\u30a4\u30d7R1\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u80a9\u3084\u9aa8\u76e4\u306e\u5468\u308a\u306e\u7b4b\u8089\uff08\u8fd1\u4f4d\u7b4b\uff09 \u304c\u5f90\u3005\u306b\u5f31\u304f\u306a\u308b\u9032\u884c\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive\uff09\u3067\u907a\u4f1d\u3057\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u5e38\u67d3\u8272\u4f53\u512a\u6027\uff08autosomal dominant\uff09\u306e\u30b1\u30fc\u30b9\uff08LGMDD4\uff09\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u306f\u3001\u5148\u306b\u8aac\u660e\u3057\u305f CAPN3\u907a\u4f1d\u5b50\u306e\u7570\u5e38 \u306b\u3088\u308b\u3082\u306e\u3067\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>LGMD R1\u306f\u3001\u9aa8\u683c\u7b4b\uff08\u81ea\u5206\u306e\u610f\u601d\u3067\u52d5\u304b\u305b\u308b\u7b4b\u8089\uff09\u304c\u5f90\u3005\u306b\u5f31\u304f\u306a\u308b\u75c5\u6c17\u3067\u3001\u7279\u306b\u9aa8\u76e4\u5e2f\u3068\u80a9\u7532\u5e2f\uff08\u3064\u307e\u308a\u8170\u3084\u80a9\u306e\u307e\u308f\u308a\u306e\u7b4b\u8089\uff09\u304c\u5f71\u97ff\u3092\u53d7\u3051\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u77e5\u7684\u767a\u9054\u306b\u306f\u5f71\u97ff\u3057\u306a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3001\u5fc3\u81d3\u75c5\u3092\u4f34\u3046\u3053\u3068\u3082\u307e\u308c\u3067\u3059\u3002\u767a\u75c7\u5e74\u9f62\u306f\u30018\u6b73\u304b\u308930\u6b73\u3054\u308d\u304c\u4e00\u822c\u7684\u3067\u3059\u304c\u3001\u305d\u308c\u3088\u308a\u65e9\u3044\u30fb\u9045\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30eb\u30d1\u30a4\u30f33\uff08CAPN3\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7b4b\u8089\u306e\u4e2d\u306e\u69cb\u9020\u300c\u30b5\u30eb\u30b3\u30e1\u30a2\u300d\u306e\u5b89\u5b9a\u306b\u5fc5\u8981\u3067\u3042\u308a\u3001\u7b4b\u8089\u306e\u4fee\u5fa9\u3084\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u6d41\u308c\u306e\u8abf\u6574\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5206\u89e3\u30fb\u518d\u5229\u7528\u306a\u3069\u591a\u304f\u306e\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002CAPN3\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u3001\u7b4b\u8089\u304c\u6b21\u7b2c\u306b\u50b7\u3064\u304d\u3001\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u306e\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\uff08Wilson\u75c5\uff09\u3010ATP7B\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306f\u9285\u306e\u4ee3\u8b1d\u7570\u5e38\u306b\u3088\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3001\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u307e\u3067\u3084\u3055\u3057\u304f\u4e01\u5be7\u306b\u3054\u8aac\u660e\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/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>LGMD R1\u306f\u3001\u4e16\u754c\u5168\u4f53\u3067\u306f100\u4e07\u4eba\u3042\u305f\u308a\u7d048.3\u4eba\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u7279\u5b9a\u306e\u5730\u57df\u3067\u306f\u3088\u308a\u591a\u304f\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u30a4\u30bf\u30ea\u30a2\u5317\u6771\u90e8\u3067\u306f\u3001100\u4e07\u4eba\u3042\u305f\u308a26.5\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u5168\u3066\u306eLGMD\u306e\u3046\u3061\u306e\u7d0430\u301c32\uff05\u3092\u5360\u3081\u3066\u304a\u308a\u3001\u3082\u3063\u3068\u3082\u4e00\u822c\u7684\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002<br>\u5357\u7c73\u306e\u30d6\u30e9\u30b8\u30eb\u3001\u30a4\u30f3\u30c9\u3001\u5730\u4e2d\u6d77\u6cbf\u5cb8\u5730\u57df\u306a\u3069\u3067\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5730\u57df\u3054\u3068\u306b\u7570\u306a\u308b\u5909\u7570\u306e\u504f\u308a\uff08Founder effect\uff09\u304c\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\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\u306e\u539f\u56e0\u306f\u3001CAPN3\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u907a\u4f1d\u7684\u306a\u8aa4\u308a\uff09\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30ab\u30eb\u30d1\u30a4\u30f33\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u304b\u3001\u5927\u5e45\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308bCAPN3\u306e\u5909\u7570\u306f500\u7a2e\u985e\u4ee5\u4e0a\u306b\u306e\u307c\u308a\u3001\u4e3b\u306a\u30bf\u30a4\u30d7\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08missense\uff09\uff1a \u30a2\u30df\u30ce\u9178\u304c\u5225\u306e\u3082\u306e\u306b\u7f6e\u304d\u63db\u308f\u308b<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570\uff08splice-site\uff09\uff1a \u907a\u4f1d\u60c5\u5831\u306e\u300c\u5207\u308a\u8cbc\u308a\u300d\u306e\u8aa4\u308a<\/li>\n\n\n\n<li>\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\uff08intronic\uff09\uff1a \u907a\u4f1d\u5b50\u306e\u975e\u30b3\u30fc\u30c9\u9818\u57df\u306e\u7570\u5e38\uff08\u4f8b\uff1ac.1783-72C&gt;G\uff09<\/li>\n\n\n\n<li>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u3001\u633f\u5165\u3001\u6b20\u5931\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<p>CAPN3\u306f\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u8abf\u7bc0\u3001\u7b4b\u7e4a\u7dad\u306e\u518d\u69cb\u7bc9\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u4ee3\u8b1d\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5b89\u5b9a\u5316\u306a\u3069\u306b\u3082\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u591a\u69d8\u306a\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u7b4b\u529b\u4f4e\u4e0b\u304c\u751f\u3058\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>\u75c7\u72b6\u306f\u3001\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8170\u3084\u592a\u3082\u3082\u3001\u80a9\u3084\u8155\u306e\u7b4b\u529b\u4f4e\u4e0b\uff08\u8fd1\u4f4d\u7b4b\u306e\u5bfe\u79f0\u6027\u7b4b\u529b\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li>\u6b69\u884c\u56f0\u96e3\u3001\u968e\u6bb5\u6607\u964d\u306e\u56f0\u96e3\u3001\u8d70\u308b\u306e\u304c\u9045\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u30ac\u30ef\u30fc\u30ba\u5fb4\u5019\uff08\u7acb\u3061\u4e0a\u304c\u308b\u6642\u306b\u624b\u3092\u4f7f\u3063\u3066\u4f53\u3092\u62bc\u3057\u4e0a\u3052\u308b\u52d5\u4f5c\uff09<\/li>\n\n\n\n<li>\u80a9\u7532\u9aa8\u306e\u7a81\u51fa\uff08\u80a9\u7532\u9aa8\u7ffc\u72b6\u5909\u5f62\uff09<\/li>\n\n\n\n<li>\u8170\u306e\u53cd\u308a\uff08\u8170\u690e\u524d\u5f2f\uff09\u3001\u59ff\u52e2\u7570\u5e38<\/li>\n\n\n\n<li>\u3075\u304f\u3089\u306f\u304e\u306e\u80a5\u5927\uff08\u4eee\u6027\u80a5\u5927\uff09<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u3053\u308f\u3070\u308a\uff08\u62d8\u7e2e\uff09<\/li>\n\n\n\n<li>\u7b4b\u8089\u75db\u3001\u75b2\u308c\u3084\u3059\u3055\u3001\u904b\u52d5\u5f8c\u306e\u75db\u307f\uff08\u30df\u30aa\u30a2\u30eb\u30ae\u30a2\uff09<\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u306e\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u4e0a\u6607\uff1a\u901a\u5e38\u306e5\u301c80\u500d<\/li>\n<\/ul>\n\n\n\n<p>\u547c\u5438\u969c\u5bb3\u3084\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u6bd4\u8f03\u7684\u307e\u308c\u3067\u3059\u304c\u3001\u9032\u884c\u3059\u308b\u3068\u3054\u304f\u4e00\u90e8\u306e\u65b9\u3067\u306f\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A8%80%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span>\u7a00\u306a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9854\u9762\u306e\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u9838\u90e8\u306e\u524d\u5c48\uff08\u30ab\u30f3\u30d7\u30c8\u30b3\u30eb\u30df\u30a2\uff09<\/li>\n\n\n\n<li>\u4ee3\u8b1d\u6027\u7b4b\u75be\u60a3\u306b\u4f3c\u305f\u75c7\u72b6<\/li>\n\n\n\n<li>\u5c0f\u5150\u671f\u767a\u75c7\u306e\u597d\u9178\u7403\u6027\u7b4b\u708e\u3068\u306e\u5408\u4f75\u5831\u544a\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\"><\/span>1. \u8840\u6db2\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\u5024\u306e\u4e0a\u6607\uff08\u6b63\u5e38\u5024\u306e\u6570\u500d\u301c\u6570\u5341\u500d\uff09<\/li>\n\n\n\n<li>\u809d\u9175\u7d20\uff08AST\u3001ALT\uff09\u3001LDH\u306e\u8efd\u5ea6\u4e0a\u6607\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%AD%8B%E9%9B%BB%E5%9B%B3%EF%BC%88EMG%EF%BC%89\"><\/span>2. \u7b4b\u96fb\u56f3\uff08EMG\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u7570\u5e38\uff08\u7b4b\u539f\u6027\u5909\u5316\uff09\u3092\u793a\u3059<\/li>\n\n\n\n<li>\u521d\u671f\u3084\u8efd\u75c7\u3067\u306f\u6b63\u5e38\u306e\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%AD%8B%E8%82%89MRI%EF%BC%89\"><\/span>3. \u753b\u50cf\u691c\u67fb\uff08\u7b4b\u8089MRI\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u8102\u80aa\u5316\u30fb\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b<\/li>\n\n\n\n<li>\u592a\u3082\u3082\u5f8c\u65b9\u3001\u9aa8\u76e4\u3001\u3075\u304f\u3089\u306f\u304e\u306e\u7b4b\u8089\u304c\u7279\u306b\u5f71\u97ff\u3092\u53d7\u3051\u3084\u3059\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%AD%8B%E7%94%9F%E6%A4%9C%EF%BC%88%E7%AD%8B%E8%82%89%E7%B5%84%E7%B9%94%E3%81%AE%E6%A4%9C%E6%9F%BB%EF%BC%89\"><\/span>4. \u7b4b\u751f\u691c\uff08\u7b4b\u8089\u7d44\u7e54\u306e\u691c\u67fb\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7e4a\u7dad\u306e\u5927\u304d\u3055\u306e\u3070\u3089\u3064\u304d\u3001\u58ca\u6b7b\u3068\u518d\u751f\u3001\u7dda\u7dad\u5316<\/li>\n\n\n\n<li>\u4e2d\u5fc3\u6838\u3001\u30ed\u30d6\u30ec\u30fc\u30c6\u30c3\u30c9\u30d5\u30a1\u30a4\u30d0\u30fc\uff08\u7b4b\u7e4a\u7dad\u5185\u306e\u69cb\u9020\u7570\u5e38\uff09\u306a\u3069\u306e\u6240\u898b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E8%A7%A3%E6%9E%90%EF%BC%88%E5%85%8D%E7%96%AB%E6%9F%93%E8%89%B2%E3%83%BB%E3%82%A6%E3%82%A8%E3%82%B9%E3%82%BF%E3%83%B3%E3%83%96%E3%83%AD%E3%83%83%E3%83%88%EF%BC%89\"><\/span>5. \u30bf\u30f3\u30d1\u30af\u8cea\u89e3\u6790\uff08\u514d\u75ab\u67d3\u8272\u30fb\u30a6\u30a8\u30b9\u30bf\u30f3\u30d6\u30ed\u30c3\u30c8\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30eb\u30d1\u30a4\u30f33\u306e\u6b20\u5931\u307e\u305f\u306f\u8457\u3057\u304f\u4f4e\u4e0b\u304c\u78ba\u8a8d\u3055\u308c\u308b<\/li>\n\n\n\n<li>\u4ed6\u306e\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u4f8b\uff1a\u30c7\u30a3\u30b9\u30d5\u30a1\u30ea\u30f3\uff09\u306e\u4e8c\u6b21\u7684\u6e1b\u5c11\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>6. \u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>NGS\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff09\u306b\u3088\u308b\u591a\u907a\u4f1d\u5b50\u89e3\u6790<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u5909\u7570\u306a\u3069\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306bcDNA\u89e3\u6790\u304c\u5fc5\u8981\u306a\u3053\u3068\u3082\u3042\u308b<\/li>\n\n\n\n<li>Sanger\u6cd5\u3067\u306e\u691c\u8a3c\u3001\u5bb6\u65cf\u5185\u306e\u907a\u4f1d\u5b50\u5206\u96e2\u89e3\u6790\u3082\u91cd\u8981\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%96%B0%E3%81%9F%E3%81%AA%E8%A8%BA%E6%96%AD%E6%8A%80%E8%A1%93\"><\/span>7. \u65b0\u305f\u306a\u8a3a\u65ad\u6280\u8853<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CAPN3\u306e\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u3084\u5c3f\u4e2d\u3067\u306e\u767a\u73fe\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u4eca\u5f8c\u306f\u7b4b\u751f\u691c\u3092\u56de\u907f\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/atp6v1b1-related-rta-hearing-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074 <\/div>\n          <div class=\"blog-card-excerpt\">ATP6V1B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u75c7\u72b6\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3092\u3084\u3055\u3057\u304f\u7d39\u4ecb\u3057\u307e\u3059\uff5c\u30d2\u30ed\u30af...<\/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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8F%BE%E6%99%82%E7%82%B9%E3%81%A7%E3%81%AE%E6%B2%BB%E7%99%82%E6%96%B9%E9%87%9D\"><\/span>\u73fe\u6642\u70b9\u3067\u306e\u6cbb\u7642\u65b9\u91dd<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u6cbb\u7652\u3055\u305b\u308b\u65b9\u6cd5\uff09\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u7de9\u548c\u3068\u9032\u884c\u4e88\u9632\u306e\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u6cbb\u7642\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%90%86%E5%AD%A6%E7%99%82%E6%B3%95%E3%83%BB%E9%81%8B%E5%8B%95%E7%99%82%E6%B3%95\"><\/span>1. \u7406\u5b66\u7642\u6cd5\u30fb\u904b\u52d5\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u529b\u7dad\u6301\u3068\u62d8\u7e2e\u4e88\u9632\u306e\u305f\u3081\u306e\u30b9\u30c8\u30ec\u30c3\u30c1\u3068\u7b4b\u30c8\u30ec\uff08\u7121\u7406\u306e\u306a\u3044\u7bc4\u56f2\u3067\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%A3%85%E5%85%B7%E3%83%BB%E8%A3%9C%E5%8A%A9%E5%85%B7\"><\/span>2. \u88c5\u5177\u30fb\u88dc\u52a9\u5177<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u59ff\u52e2\u306e\u7dad\u6301\u3001\u6b69\u884c\u306e\u5b89\u5b9a\u306e\u305f\u3081\u306b\u88c5\u5177\u3084\u8eca\u6905\u5b50\u3092\u6d3b\u7528<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%91%BC%E5%90%B8%E3%83%BB%E5%BF%83%E6%A9%9F%E8%83%BD%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>3. \u547c\u5438\u30fb\u5fc3\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u547c\u5438\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u305f\u5834\u5408\u306f\u3001\u547c\u5438\u88dc\u52a9\u88c5\u7f6e\uff08NPPV\u306a\u3069\uff09\u3092\u5c0e\u5165<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95%EF%BC%88%E7%A0%94%E7%A9%B6%E6%AE%B5%E9%9A%8E%EF%BC%89\"><\/span>4. \u85ac\u7269\u7642\u6cd5\uff08\u7814\u7a76\u6bb5\u968e\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\uff09\uff1a\u6709\u7528\u6027\u306f\u9650\u5b9a\u7684\u306a\u304c\u3089\u7814\u7a76\u4e2d<\/li>\n\n\n\n<li>\u30df\u30aa\u30b9\u30bf\u30c1\u30f3\u963b\u5bb3\u85ac\uff08\u4f8b\uff1aMYO-029\uff09\uff1a\u7b4b\u80a5\u5927\u306f\u898b\u3089\u308c\u308b\u304c\u6a5f\u80fd\u6539\u5584\u306f\u9650\u5b9a\u7684<\/li>\n\n\n\n<li>Wnt\u7d4c\u8def\u4f5c\u52d5\u85ac\uff08AMBMP\uff09\uff1a\u9045\u7b4b\u7dda\u7dad\u306e\u6a5f\u80fd\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%88%E9%96%8B%E7%99%BA%E4%B8%AD%EF%BC%89\"><\/span>5. \u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u958b\u767a\u4e2d\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AAV\uff08\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b9\uff09\u3092\u7528\u3044\u305fCAPN3\u907a\u4f1d\u5b50\u306e\u5c0e\u5165<\/li>\n\n\n\n<li>\u7279\u5b9a\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306b\u5bfe\u3059\u308b\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\uff08ASO\uff09\u7642\u6cd5\u3082\u7814\u7a76\u4e2d<\/li>\n\n\n\n<li>CRISPR-Cas9\u6280\u8853\u306b\u3088\u308b\u30b2\u30ce\u30e0\u7de8\u96c6\u3068\u5e79\u7d30\u80de\u6cbb\u7642\u306e\u8a66\u307f\u3082\u9032\u3093\u3067\u3044\u307e\u3059<\/li>\n<\/ul>\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>LGMD R1\u306e\u9032\u884c\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u6b21\u306e\u3088\u3046\u306a\u8981\u56e0\u3067\u5909\u308f\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u5e74\u9f62\uff1a \u65e9\u3051\u308c\u3070\u9032\u884c\u304c\u65e9\u304f\u306a\u308b\u50be\u5411\u3042\u308a<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u578b\uff1a CAPN3\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5b8c\u5168\u306b\u6b20\u640d\u3059\u308b\u5909\u7570\u306f\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\uff1a \u5973\u6027\u306fCK\u306e\u4e0a\u6607\u304c\u8457\u3057\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u9032\u884c\u306f\u6bd4\u8f03\u7684\u9045\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B9%B3%E5%9D%87%E7%9A%84%E3%81%AA%E7%B5%8C%E9%81%8E\"><\/span>\u5e73\u5747\u7684\u306a\u7d4c\u904e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b69\u884c\u6a5f\u80fd\u306e\u55aa\u5931\uff1a \u5e73\u5747\u3067\u767a\u75c7\u304b\u308915\u301c25\u5e74\u5f8c\uff08\u591a\u304f\u306f30\u4ee3\u524d\u534a\u307e\u3067\u306b\uff09<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u5408\u4f75\u75c7\uff1a \u91cd\u75c7\u5316\u3059\u308b\u4f8b\u306f\u5c11\u6570\uff08\u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u5831\u544a\u3067\u306f\u7d0411\uff05\uff09<\/li>\n\n\n\n<li>\u5fc3\u6a5f\u80fd\uff1a \u8efd\u5ea6\u306e\u5fc3\u7b4b\u75c7\u304c\u7a00\u306b\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u901a\u5e38\u306f\u554f\u984c\u3042\u308a\u307e\u305b\u3093<\/li>\n<\/ul>\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<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Muscular Dystrophy\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u304c\u3060\u3093\u3060\u3093\u5f31\u3063\u3066\u3044\u304f\u9032\u884c\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u56db\u80a2\u5e2f\u578b\uff08Limb-Girdle\uff09<\/strong><strong><br><\/strong> \u80a9\u3084\u8170\u306e\u307e\u308f\u308a\u306e\u7b4b\u8089\u304c\u4e3b\u306b\u5f31\u304f\u306a\u308b\u30bf\u30a4\u30d7\u3092\u8868\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong> \u4f53\u3092\u3064\u304f\u308b\u305f\u3081\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u3088\u3046\u306a\u60c5\u5831\u3067\u3001\u89aa\u304b\u3089\u5b50\u306b\u53d7\u3051\u3064\u304c\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CAPN3\uff08\u30ab\u30ea\u30d1\u30a4\u30f33\uff09\u907a\u4f1d\u5b50<\/strong><strong><br><\/strong> \u7b4b\u8089\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u300c\u30ab\u30ea\u30d1\u30a4\u30f33\u300d\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ab\u30ea\u30d1\u30a4\u30f33\uff08Calpain-3\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u3092\u5b88\u3063\u305f\u308a\u3001\u4fee\u5fa9\u3057\u305f\u308a\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b5\u30eb\u30b3\u30e1\u30a2\uff08Sarcomere\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u3092\u7e2e\u3081\u305f\u308a\u4f38\u3070\u3057\u305f\u308a\u3059\u308b\u300c\u529b\u306e\u3082\u3068\u300d\u3068\u306a\u308b\u90e8\u5206\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong> \u4e21\u89aa\u304b\u3089\u3072\u3068\u3064\u305a\u3064\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u3064\u3050\u3053\u3068\u3067\u75c5\u6c17\u304c\u3042\u3089\u308f\u308c\u308b\u907a\u4f1d\u306e\u578b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u7570\uff08Mutation\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u60c5\u5831\u304c\u66f8\u304d\u5909\u308f\u3063\u3066\u3057\u307e\u3044\u3001\u6b63\u3057\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff0fCreatine Kinase\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u304c\u3053\u308f\u308c\u308b\u3068\u8840\u6db2\u306e\u4e2d\u306b\u591a\u304f\u51fa\u3066\u304f\u308b\u7269\u8cea\u3067\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u96fb\u56f3\uff08EMG\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u3084\u795e\u7d4c\u306e\u306f\u305f\u3089\u304d\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u751f\u691c\uff08Muscle Biopsy\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u306e\u4e00\u90e8\u3092\u53d6\u308a\u51fa\u3057\u3066\u3001\u75c5\u6c17\u306e\u7279\u5fb4\u3092\u9855\u5fae\u93e1\u3067\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a6\u30a8\u30b9\u30bf\u30f3\u30d6\u30ed\u30c3\u30c8\uff08Western Blot\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u306b\u3042\u308b\u7279\u5b9a\u306e\u305f\u3093\u3071\u304f\u8cea\u306e\u91cf\u3092\u8abf\u3079\u308b\u65b9\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ac\u30ef\u30fc\u30ba\u5fb4\u5019\uff08Gower\u2019s Sign\uff09<\/strong><strong><br><\/strong> \u7acb\u3061\u4e0a\u304c\u308b\u3068\u304d\u306b\u3001\u624b\u3067\u4f53\u3092\u62bc\u3057\u4e0a\u3052\u308b\u3088\u3046\u306b\u3057\u3066\u8d77\u304d\u4e0a\u304c\u308b\u52d5\u4f5c\u3002\u7b4b\u529b\u4f4e\u4e0b\u306e\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a9\u7532\u9aa8\u7ffc\u72b6\u5909\u5f62\uff08Scapular Winging\uff09<\/strong><strong><br><\/strong> \u80a9\u306e\u5f8c\u308d\u306e\u9aa8\u304c\u6d6e\u304d\u51fa\u3066\u3001\u7ffc\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u62d8\u7e2e\uff08Contracture\uff09<\/strong><strong><br><\/strong> \u95a2\u7bc0\u304c\u56fa\u304f\u306a\u308a\u3001\u52d5\u304d\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eee\u6027\u80a5\u5927\uff08Pseudohypertrophy\uff09<\/strong><strong><br><\/strong> \u7b4b\u8089\u304c\u5927\u304d\u304f\u898b\u3048\u3066\u3082\u3001\u5b9f\u306f\u4e2d\u8eab\u304c\u8102\u80aa\u306a\u3069\u306b\u7f6e\u304d\u304b\u308f\u3063\u3066\u3044\u3066\u3001\u529b\u304c\u5f31\u304f\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\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:\/\/doi.org\/10.3389\/fgene.2024.1410727\">Feng, Wanjun, et al. \u2018Case Report: A Novel Mutation of the CAPN3 Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy Type 2A\u2019. <em>Frontiers in Genetics<\/em>, vol. 15, Aug. 2024, p. 1410727. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fgene.2024.1410727.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0043-1772833\">Lorenzoni, Paulo Jos\u00e9, et al. \u2018Single-Centre Experience with Autosomal Recessive Limb-Girdle Muscular Dystrophy: Case Series and Literature Review\u2019. <em>Arquivos de Neuro-Psiquiatria<\/em>, vol. 81, no. 10, Oct. 2023, pp. 922\u201333. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1055\/s-0043-1772833.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/cells13040329\">Aguti, Sara, et al. \u2018Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)\u2019. <em>Cells<\/em>, vol. 13, no. 4, Feb. 2024, p. 329. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/cells13040329.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3233\/JND-200547\">Pathak, Pankaj, et al. \u2018Mutational Spectrum of <em>CAPN3<\/em> with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A\/R1 (LGMD2A\/LGMDR1) Patients in India\u2019. <em>Journal of Neuromuscular Diseases<\/em>, vol. 8, no. 1, Oct. 2020, pp. 125\u201336. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3233\/JND-200547.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/22143602251345967\">Bardakov, Sergey N., et al. \u2018Calpainopathy (Limb-Girdle Muscular Dystrophy Type R1): Clinical Features, Diagnostic Approaches, and Biotechnological Treatment Methods\u2019. <em>Journal of Neuromuscular Diseases<\/em>, June 2025, p. 22143602251345967. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1177\/22143602251345967.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3892\/ijmm.2021.5036\">Chen, Lin, et al. \u2018CAPN3: A Muscle\u2011specific Calpain with an Important Role in the Pathogenesis of Diseases (Review)\u2019. <em>International Journal of Molecular Medicine<\/em>, vol. 48, no. 5, Sept. 2021, p. 203. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3892\/ijmm.2021.5036.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/pathophysiology28020016\">\u015eahin, \u0130zem Olcay, et al. \u2018Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches\u2019. <em>Pathophysiology<\/em>, vol. 28, no. 2, May 2021, pp. 238\u201349. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/pathophysiology28020016.<\/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<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>CAPN3, \u30ab\u30eb\u30d1\u30a4\u30f33, \u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc, LGMDR1, LGMD2A, \u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u30b5\u30eb\u30b3\u30e1\u30a2, \u8fd1\u4f4d\u7b4b, \u9ad8CK\u8840\u75c7, \u80a9\u7532\u9aa8\u7ffc\u72b6\u5909\u5f62, \u62d8\u7e2e, \u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570, \u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0, \u30a6\u30a8\u30b9\u30bf\u30f3\u30d6\u30ed\u30c3\u30c8, \u7b4b\u751f\u691c, \u907a\u4f1d\u5b50\u6cbb\u7642, AAV\u30d9\u30af\u30bf\u30fc, CRISPR-Cas9, \u30ab\u30eb\u30b7\u30a6\u30e0\u6052\u5e38\u6027, SERCA, \u907a\u4f1d\u5b50\u5909\u7570, 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