{"id":33771,"date":"2022-07-12T11:50:34","date_gmt":"2022-07-12T02:50:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33771"},"modified":"2026-03-05T10:28:38","modified_gmt":"2026-03-05T01:28:38","slug":"limb-girdle-muscular-dystrophy-type-2e","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2e\/","title":{"rendered":"\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u2161E\u578b"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2E\u578b\uff08LGMD2E\uff0fLGMDR4\uff09\u306f\u3001SGCB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u7b4b\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u80a9\u3084\u8170\u5468\u308a\u306e\u7b4b\u8089\u304c\u5f90\u3005\u306b\u5f31\u307e\u308a\u3001\u547c\u5438\u3084\u5fc3\u81d3\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u73fe\u5728\u3001\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65b0\u3057\u3044\u907a\u4f1d\u5b50\u6cbb\u7642\u85ac\uff08SRP-9003\uff09\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>SGCB\uff5cLimb-Girdle Muscular Dystrophy, Type 2E<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2E\u578b\uff08LGMD2E\uff09\u306f\u3001\u6b63\u5f0f\u306b\u306f\u300c\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fcR4\u578b\uff08LGMDR4\uff09\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u306e\u7b4b\u75be\u60a3\u3067\u3059\u3002\u3053\u308c\u306f\u300c\u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u907a\u4f1d\u5b50\uff08SGCB\u907a\u4f1d\u5b50\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002SGCB\u907a\u4f1d\u5b50\u306f\u300c\u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u306e\u5b50\u60c5\u5831\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7b4b\u7d30\u80de\u306e\u819c\u306b\u3042\u308b\u300c\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u8907\u5408\u4f53\u300d\u306e\u91cd\u8981\u306a\u69cb\u6210\u8981\u7d20\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8907\u5408\u4f53\u306f\u3055\u3089\u306b\u5927\u304d\u306a\u300c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53\uff08DAPC\uff09\u300d\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u7b4b\u8089\u3092\u6b63\u5e38\u306b\u4fdd\u3064\u5f79\u5272\u3092\u6301\u3061\u307e\u3059\u3002SGCB\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u304c\u4e0d\u8db3\u3057\u3001\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u8907\u5408\u4f53\u3084DAPC\u306e\u5b89\u5b9a\u6027\u304c\u5931\u308f\u308c\u3001\u7d50\u679c\u3068\u3057\u3066\u80a9\u3084\u8170\u5468\u308a\uff08\u80a2\u5e2f\u7b4b\uff09\u306e\u7b4b\u8089\u304c\u5f90\u3005\u306b\u58ca\u308c\u3001\u7b4b\u529b\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u5fc3\u81d3\u3084\u547c\u5438\u7b4b\u306b\u3082\u5f71\u97ff\u304c\u51fa\u308b\u305f\u3081\u3001\u91cd\u3044\u75c7\u72b6\u3084\u6b7b\u4ea1\u30ea\u30b9\u30af\u306b\u3064\u306a\u304c\u308b\u5834\u5408\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u73fe\u5728\u3001\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3068\u3057\u3066\u958b\u767a\u4e2d\u306e\u85ac\u5264\u300c\u30d3\u30c9\u30ea\u30b8\u30b9\u30c8\u30ed\u30b8\u30fc\u30f3\u30fb\u30bc\u30dc\u30d1\u30eb\u30dc\u30d9\u30c3\u30af\uff08\u5225\u540d\uff1aSRP-9003\uff09\u300d\u304c\u81e8\u5e8a\u8a66\u9a13\u3067\u671f\u5f85\u3055\u308c\u308b\u7d50\u679c\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>LGMD2E\u306f\u4e16\u754c\u7684\u306b\u3082\u7a00\u306a\u75c5\u6c17\u3067\u300120\u4e07\uff5e35\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u3044\u3046\u907a\u4f1d\u5f62\u5f0f\u3067\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f10\u6b73\u4ee5\u524d\u306b\u75c7\u72b6\u304c\u73fe\u308c\u59cb\u3081\u300110\u4ee3\u534a\u3070\u304b\u3089\u5f8c\u534a\u3067\u6b69\u884c\u56f0\u96e3\u306b\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u6c11\u65cf\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u75c5\u6c17\u306e\u983b\u5ea6\u306b\u306f\u9055\u3044\u304c\u3042\u308a\u3001LGMD2E\uff08\u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u5909\u7570\u578b\uff09\u306f\u4ed6\u306e\u30bf\u30a4\u30d7\uff08\u7279\u306bLGMD2D\u3084LGMD2C\uff09\u3068\u6bd4\u3079\u3066\u767a\u751f\u983b\u5ea6\u304c\u5c11\u306a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u306b\u304a\u3044\u3066\u3082\u3001\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u95a2\u9023\u306e\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u4e2d\u3067\u306fLGMD2E\u306e\u60a3\u8005\u6570\u306f\u6bd4\u8f03\u7684\u5c11\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>LGMD2E\u306f\u7b2c4\u67d3\u8272\u4f53\uff084q12\uff09\u4e0a\u306b\u3042\u308bSGCB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7b4b\u8089\u7d30\u80de\u5185\u306e\u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3042\u308a\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7b4b\u7d30\u80de\u3092\u652f\u3048\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u907a\u4f1d\u5b50\u5909\u7570\u306b\u306f\u3001\u5869\u57fa\u306e\u6b20\u5931\uff08\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\uff09\u3001\u8aa4\u3063\u305f\u7d42\u6b62\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\uff09\u3001\u30a2\u30df\u30ce\u9178\u306e\u7f6e\u63db\uff08\u30df\u30b9\u30bb\u30f3\u30b9\uff09\u3001\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u6b20\u5931\u306a\u3069\u69d8\u3005\u306a\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001\u305d\u308c\u3089\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u8907\u5408\u4f53\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u7b4b\u8089\u306e\u7d30\u80de\u819c\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u7b4b\u8089\u304c\u5f31\u308a\u3001\u7b4b\u7d30\u80de\u304c\u5f90\u3005\u306b\u58ca\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">SGCB\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>LGMD2E\u306e\u60a3\u8005\u306f\u4e3b\u306b\u80a9\u3084\u8170\u3001\u9aa8\u76e4\u5468\u8fba\u306e\u7b4b\u8089\u304c\u6b21\u7b2c\u306b\u5f31\u304f\u306a\u308a\u3001\u7b4b\u8089\u304c\u7d30\u304f\u306a\u308a\u307e\u3059\u3002\u521d\u671f\u75c7\u72b6\u3068\u3057\u3066\u306f\u6b69\u884c\u56f0\u96e3\u3001\u5e8a\u304b\u3089\u7acb\u3061\u4e0a\u304c\u308b\u6642\u306e\u56f0\u96e3\u3001\u7b4b\u8089\u306e\u3053\u308f\u3070\u308a\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u306f\u7b4b\u8089\u304c\u58ca\u308c\u305f\u3068\u304d\u306b\u6f0f\u308c\u51fa\u308b\u300c\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u300d\u3068\u3044\u3046\u7269\u8cea\u304c\u9ad8\u3044\u6570\u5024\u3092\u793a\u3059\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u95a2\u7bc0\u304c\u56fa\u304f\u52d5\u304b\u3057\u306b\u304f\u304f\u306a\u308b\u300c\u95a2\u7bc0\u62d8\u7e2e\u300d\u3001\u80cc\u9aa8\u306e\u6e7e\u66f2\uff08\u810a\u67f1\u5074\u5f2f\u75c7\u3084\u5f8c\u5f2f\u75c7\uff09\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u75c7\u72b6\u304c\u9032\u3080\u3068\u6a2a\u9694\u819c\u3084\u5fc3\u81d3\u306e\u7b4b\u8089\u306b\u3082\u969c\u5bb3\u304c\u53ca\u3073\u3001\u547c\u5438\u56f0\u96e3\u3084\u5fc3\u81d3\u75be\u60a3\u306b\u3064\u306a\u304c\u308a\u3001\u751f\u547d\u4e88\u5f8c\u3092\u60aa\u5316\u3055\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>LGMD2E\u306e\u8a3a\u65ad\u306b\u306f\u3001\u75c7\u72b6\u306e\u8a55\u4fa1\u3001\u8840\u6db2\u691c\u67fb\u3067\u306e\u9ad8CK\u5024\u306e\u78ba\u8a8d\u3001\u7b4b\u751f\u691c\uff08\u7b4b\u8089\u306e\u4e00\u90e8\u3092\u53d6\u3063\u3066\u8abf\u3079\u308b\u691c\u67fb\uff09\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u7b4b\u751f\u691c\u3067\u306f\u3001\u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u3084\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6e1b\u5c11\u307e\u305f\u306f\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u30d1\u30cd\u30eb\u691c\u67fb\u3084\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3068\u547c\u3070\u308c\u308b\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0(NGS)\uff09\u3067SGCB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u308b\u3053\u3068\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002MRI\u3084\u8d85\u97f3\u6ce2\u306a\u3069\u306e\u753b\u50cf\u691c\u67fb\u304c\u8a3a\u65ad\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001LGMD2E\u306b\u5bfe\u3057\u3066\u627f\u8a8d\u3055\u308c\u305f\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u6cbb\u7642\u306f\u4e3b\u306b\u8eab\u4f53\u6a5f\u80fd\u3092\u4fdd\u3064\u305f\u3081\u306e\u7406\u5b66\u7642\u6cd5\u3084\u30ea\u30cf\u30d3\u30ea\u3001\u5fc3\u81d3\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3001\u547c\u5438\u88dc\u52a9\u3001\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u51e6\u306a\u3069\u304c\u4e2d\u5fc3\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u6700\u8fd1\u3067\u306f\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u300c\u30d3\u30c9\u30ea\u30b8\u30b9\u30c8\u30ed\u30b8\u30fc\u30f3\u30fb\u30bc\u30dc\u30d1\u30eb\u30dc\u30d9\u30c3\u30af\uff08SRP-9003\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u6cbb\u7642\u85ac\u304c\u81e8\u5e8a\u8a66\u9a13\u3067\u52b9\u679c\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6cbb\u7642\u6cd5\u3067\u306f\u3001\u5b89\u5168\u6027\u306b\u95a2\u3059\u308b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u7b4b\u8089\u7d30\u80de\u306b\u6b63\u5e38\u306aSGCB\u907a\u4f1d\u5b50\u3092\u904b\u3073\u3001\u7b4b\u8089\u306e\u50cd\u304d\u3092\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>LGMD2E\u306f\u4e00\u822c\u7684\u306b\u75c7\u72b6\u304c\u91cd\u304f\u3001\u751f\u6d3b\u306e\u8cea\u3084\u5bff\u547d\u306b\u5927\u304d\u304f\u5f71\u97ff\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u306f10\u4ee3\u306e\u3046\u3061\u306b\u6b69\u3051\u306a\u304f\u306a\u308a\u3001\u9032\u884c\u3059\u308b\u3068\u7d0460\uff05\u306e\u60a3\u8005\u306b\u547c\u5438\u969c\u5bb3\u3084\u5fc3\u81d3\u969c\u5bb3\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u82e5\u304f\u3057\u3066\u547d\u3092\u843d\u3068\u3059\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3070\u3001\u5c06\u6765\u7684\u306b\u306f\u4e88\u5f8c\u304c\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9577\u671f\u7684\u306a\u6cbb\u7642\u52b9\u679c\u306b\u3064\u3044\u3066\u306f\u4eca\u5f8c\u3055\u3089\u306b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41591-023-02730-9\">Mendell, J.R., Pozsgai, E.R., Lewis, S. <em>et al.<\/em> Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E\/R4: phase 1\/2 trial results. <em>Nat Med<\/em> <strong>30<\/strong>, 199\u2013206 (2024). https:\/\/doi.org\/10.1038\/s41591-023-02730-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1212\/WNL.96.15_supplement.4330\">Rodino-Klapac, L., Pozsgai, E., Lewis, S., Griffin, D., Meadows, A., Lehman, K., Church, K., Miller, N., Iammarino, M., Lowes, L., &amp; Mendell, J. (2021). Safety, \u03b2-sarcoglycan expression and functional outcomes from systemic gene transfer of raavrh74. Mhck7. Sgcb in patients with limb-girdle muscular dystrophy type 2(Lgmd2e)e(4330). <em>Neurology<\/em>, <em>96<\/em>(15_supplement), 4330. https:\/\/doi.org\/10.1212\/WNL.96.15_supplement.4330<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.69605\/ijlbpr_13.8.2024.34\">Patel, A., Shah, S., Chettiar, S. S., Jhala, D., &amp; Shah, S. (2024). A novel founder mutation in the sgcb gene (Exon 5) causes limb girdle muscular dystrophy (Lgmdr4) in the sathwara community, gujarat, india. <em>International Journal of Life Sciences Biotechnology and Pharma Research<\/em>, <em>13<\/em>(8), 203\u2013211. https:\/\/doi.org\/10.69605\/ijlbpr_13.8.2024.34<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2021.07.208\">Saito, Y., Hayashi, S., Noguchi, S., &amp; Nishino, I. (2021). Lgmd. <em>Neuromuscular Disorders<\/em>, <em>31<\/em>, S105. https:\/\/doi.org\/10.1016\/j.nmd.2021.07.208<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1172\/JCI168156\">Li, C., Wilborn, J., Pittman, S., Daw, J., Alonso-P\u00e9rez, J., D\u00edaz-Manera, J., Weihl, C. C., &amp; Haller, G. (2023). Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4\/2E. <em>Journal of Clinical Investigation<\/em>, <em>133<\/em>(12), e168156. https:\/\/doi.org\/10.1172\/JCI168156<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0043-1774569\">Antonio, F. F., Mec\u00ea, A. M., Elias, P. T. B., Benevides, M. L., Falc\u00e3o, A. C. P., Teixeira, K. C. S., Gra\u00e7a, F. F., Nucci, A., &amp; Franca, M. C. (2023). <em>A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient<\/em>. s-0043-1774569. https:\/\/doi.org\/10.1055\/s-0043-1774569<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup>SGCB, \u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2E\u578b, LGMD2E, LGMDR4, \u03b2\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3, \u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u8907\u5408\u4f53, \u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53, \u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc, SRP-9003, \u30d3\u30c9\u30ea\u30b8\u30b9\u30c8\u30ed\u30b8\u30fc\u30f3\u30fb\u30bc\u30dc\u30d1\u30eb\u30dc\u30d9\u30c3\u30af, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/sup><\/p>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":24,"template":"","class_list":["post-33771","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33771","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33771\/revisions"}],"predecessor-version":[{"id":125489,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33771\/revisions\/125489"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33771"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}