{"id":121892,"date":"2026-01-07T18:10:47","date_gmt":"2026-01-07T09:10:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121892"},"modified":"2026-03-03T17:51:44","modified_gmt":"2026-03-03T08:51:44","slug":"limb-girdle-muscular-dystrophy-type-2a-capn3","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2a-capn3\/","title":{"rendered":"2A\u578b \u56db\u80a2\u5e2f\u72b6\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>2A\u578b \u56db\u80a2\u5e2f\u72b6\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001\u4e3b\u306b\u80a9\u7532\u5e2f\uff08\u80a9\u307e\u308f\u308a\uff09\u30fb\u9aa8\u76e4\u5e2f\uff08\u80a1\u95a2\u7bc0\u307e\u308f\u308a\uff09\u306a\u3069\u306e<strong>\u8fd1\u4f4d\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b\u3068\u7b4b\u840e\u7e2e\u304c\u5de6\u53f3\u5bfe\u79f0\u306b\u9032\u884c<\/strong>\u3059\u308b\u907a\u4f1d\u6027\u7b4b\u75be\u60a3\u3067\u3001CAPN3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u308b\u3053\u3068\u304b\u3089**\u30ab\u30ea\u30d1\u30a4\u30ce\u30d1\u30c1\u30fc\uff08calpainopathy\uff09**\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u767a\u75c7\u5e74\u9f62\u306f\u5e45\u304c\u3042\u308a\u3001\u5e7c\u5150\u671f\u304b\u3089\u6210\u4eba\u671f\u307e\u3067\u307f\u3089\u308c\u307e\u3059\u3002\u5fc3\u7b4b\u969c\u5bb3\u306f\u4e00\u822c\u306b\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3067\u3001\u7b4b\u529b\u4f4e\u4e0b\u306b\u4f34\u3046\u6b69\u884c\u969c\u5bb3\u3084\u95a2\u7bc0\u62d8\u7e2e\u3001\u5074\u5f2f\u306a\u3069\u304c\u554f\u984c\u306b\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>LGMD2A\uff08=LGMDR1\/CAPN3\u95a2\u9023\uff09\u306f\u3001\u5730\u57df\u306b\u3088\u3063\u3066\u5dee\u306f\u3042\u308b\u3082\u306e\u306e\u3001<strong>\u56db\u80a2\u5e2f\u72b6\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u4e2d\u3067\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u75c5\u578b<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002NIH\uff08GARD\uff09\u3067\u306fLGMD2A\u304cLGMD\u306e<strong>\u7d0430%\u3092\u5360\u3081\u308b\u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<\/strong><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/1057\/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2a?utm_source=chatgpt.com\"><strong>rarediseases.info.nih.gov<\/strong><\/a><strong>)<\/strong><strong><br><\/strong><strong>Orphanet\u3067\u306f\u3001CAPN3\u95a2\u9023LGMD\uff08calpain-3-related LGMD\uff09\u306e\u6709\u75c5\u7387\u30921\u20139\/100,000<\/strong>\u3068\u3057\u3066\u3044\u307e\u3059\uff08\u63a8\u5b9a\u5024\uff09\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/267?utm_source=chatgpt.com\">Orpha<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u539f\u56e0\u306f<strong>CAPN3\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8<\/strong>\u3067\u3059\u3002CAPN3\u306f\u9aa8\u683c\u7b4b\u306b\u5b58\u5728\u3059\u308b\u9175\u7d20**\u30ab\u30ea\u30d1\u30a4\u30f33\uff08calpain-3\uff09**\u3092\u30b3\u30fc\u30c9\u3057\u3001\u7b4b\u7dda\u7dad\uff08\u30b5\u30eb\u30b3\u30e1\u30a2\uff09\u3067\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7dad\u6301\u30fb\u4fee\u5fa9\u306a\u3069\u306b\u95a2\u308f\u308a\u307e\u3059\u3002CAPN3\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u7b4b\u7d30\u80de\u5185\u3067\u969c\u5bb3\u30bf\u30f3\u30d1\u30af\u306e\u51e6\u7406\u306a\u3069\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u7b4b\u529b\u4f4e\u4e0b\u3068\u7b4b\u840e\u7e2e\u304c\u9032\u884c\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/capn3\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong>\u306f\u591a\u304f\u304c<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3067\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u3067\u3059\uff08\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u7b4b\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b<\/strong>\uff08\u80a1\u95a2\u7bc0\u30fb\u592a\u3082\u3082\u3001\u80a9\u5468\u56f2\u306a\u3069\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u8d70\u308a\u306b\u304f\u3044\u3001\u968e\u6bb5\u6607\u964d\u304c\u3064\u3089\u3044\u3001\u7acb\u3061\u4e0a\u304c\u308a\u304c\u56f0\u96e3\uff08Gowers\u5fb4\u5019\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u3064\u307e\u5148\u6b69\u884c<\/strong>\u3001\u30a2\u30ad\u30ec\u30b9\u8171\u77ed\u7e2e\u306a\u3069\u306e<strong>\u62d8\u7e2e<\/strong>\u3001<strong>\u80a9\u7532\u9aa8\u306e\u7ffc\u72b6\u80a9\u7532<\/strong>\u3001\u52d5\u63fa\u6027\u6b69\u884c (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u8840\u6e05CK\u9ad8\u5024<\/strong>\uff08\u7121\u75c7\u5019\u6027\u9ad8CK\u8840\u75c7\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u3082\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/358391?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u9032\u884c\u306b\u4f34\u3044\u6b69\u884c\u88dc\u52a9\u5177\u304c\u5fc5\u8981\u306b\u306a\u308a\u3001\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u6210\u4eba\u671f\u306b\u8eca\u3044\u3059\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u9032\u884c\u901f\u5ea6\u306b\u306f\u5e45\uff09\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/s13023-023-02897-x?utm_source=chatgpt.com\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u4e00\u822c\u306b<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u4f34\u308f\u306a\u3044<\/strong>\u3068\u3055\u308c\u3001\u307e\u305f<strong>\u91cd\u3044\u5fc3\u7b4b\u969c\u5bb3\u306f\u5178\u578b\u7684\u3067\u306f\u306a\u3044<\/strong>\u3068\u3055\u308c\u307e\u3059\uff08\u305f\u3060\u3057\u500b\u5225\u8a55\u4fa1\u306f\u91cd\u8981\u3067\u3059\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u50cf\u3068\u691c\u67fb\u6240\u898b\u306b\u52a0\u3048\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\u8fd1\u4f4d\u7b4b\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u6b69\u884c\u969c\u5bb3\u3001\u62d8\u7e2e\u3001\u5bb6\u65cf\u6b74\u306a\u3069 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\uff1aCK\u9ad8\u5024\u306a\u3069\u7b4b\u969c\u5bb3\u3092\u793a\u3059\u6240\u898b (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/358391?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u7b4b\u753b\u50cf\uff08MRI\u306a\u3069\uff09<\/strong>\uff1a\u7b4b\u306e\u8102\u80aa\u5909\u6027\u30fb\u840e\u7e2e\u306e\u5206\u5e03\u8a55\u4fa1\uff08\u9451\u5225\u3084\u91cd\u75c7\u5ea6\u8a55\u4fa1\u306b\u6709\u7528\uff09 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/s13023-023-02897-x?utm_source=chatgpt.com\">Springer<\/a>)<\/li>\n\n\n\n<li><strong>\u7b4b\u751f\u691c\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09<\/strong>\uff1a\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u5909\u5316\u306e\u78ba\u8a8d\u3084\u88dc\u52a9\u8a3a\u65ad\uff08\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e2d\u5fc3\uff09 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2008193?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1a<strong>CAPN3\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u540c\u5b9a<\/strong>\u3057\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067CAPN3\u95a2\u9023LGMD\uff08LGMD2A\uff09\u3092<strong>\u6839\u6cbb<\/strong>\u3059\u308b\u6a19\u6e96\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u4e2d\u5fc3\u3068\u306a\u308b\u306e\u306f<strong>\u652f\u6301\u7642\u6cd5\u30fb\u5408\u4f75\u75c7\u4e88\u9632<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u904e\u7528\u3092\u907f\u3051\u3064\u3064\u3001\u95a2\u7bc0\u53ef\u52d5\u57df\u7dad\u6301\uff08\u62d8\u7e2e\u4e88\u9632\uff09\u3001\u7b4b\u529b\u30fb\u6b69\u884c\u6a5f\u80fd\u306e\u7dad\u6301 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u88c5\u5177\u30fb\u6b69\u884c\u88dc\u52a9\u5177<\/strong>\uff1a\u8ee2\u5012\u4e88\u9632\u3084\u79fb\u52d5\u80fd\u529b\u306e\u7dad\u6301<\/li>\n\n\n\n<li><strong>\u547c\u5438\u30fb\u5fc3\u6a5f\u80fd\u306e\u5b9a\u671f\u8a55\u4fa1<\/strong>\uff1a\u5178\u578b\u7684\u306b\u91cd\u3044\u5fc3\u7b4b\u969c\u5bb3\u306f\u5c11\u306a\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u500b\u5225\u306b\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u75bc\u75db\u30fb\u75b2\u52b4\u3001\u4e8c\u6b21\u7684\u969c\u5bb3\u3078\u306e\u5bfe\u51e6<\/strong>\uff1a\u6574\u5f62\u5916\u79d1\u7684\u5bfe\u5fdc\uff08\u62d8\u7e2e\u3001\u5074\u5f2f\u306a\u3069\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306b\u57fa\u3065\u304f\u5bb6\u65cf\u5185\u30ea\u30b9\u30af\u8a55\u4fa1 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/1057\/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2a?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>GeneReviews\u00ae\uff1a<strong>Calpainopathy<\/strong>\uff08CAPN3\u95a2\u9023LGMD\u306e\u81e8\u5e8a\u50cf\u30fb\u8a3a\u65ad\u30fb\u7ba1\u7406\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>Orphanet\uff1a<strong>Calpain-3-related limb-girdle muscular dystrophy R1<\/strong>\uff08\u75ab\u5b66\u30fb\u75be\u60a3\u6982\u8981\uff09 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/267?utm_source=chatgpt.com\">Orpha<\/a>)<\/li>\n\n\n\n<li>NIH Genetic and Rare Diseases (GARD)\uff1a<strong>Autosomal recessive limb-girdle muscular dystrophy type 2A<\/strong>\uff08\u75be\u60a3\u6982\u8981\u30fb\u983b\u5ea6\u306e\u4f4d\u7f6e\u3065\u3051\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/1057\/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2a?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li>MedlinePlus Genetics\uff1a<strong>CAPN3 gene<\/strong>\uff0f<strong>Limb-girdle muscular dystrophy<\/strong>\uff08\u907a\u4f1d\u5b50\u6a5f\u80fd\u30fb\u75c5\u614b\uff09 (<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/capn3\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n\n\n\n<li>Orphanet Journal of Rare Diseases 2023\uff1aLGMD\u306e\u753b\u50cf\u6240\u898b\u30fb\u75ab\u5b66\u63a8\u5b9a\u3092\u542b\u3080\u30ec\u30d3\u30e5\u30fc (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/s13023-023-02897-x?utm_source=chatgpt.com\">Springer<\/a>)<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121892","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\/121892","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121892\/revisions"}],"predecessor-version":[{"id":125310,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121892\/revisions\/125310"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121892"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}