{"id":60120,"date":"2023-08-24T11:23:46","date_gmt":"2023-08-24T02:23:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60120"},"modified":"2026-05-08T11:48:21","modified_gmt":"2026-05-08T02:48:21","slug":"congenital-amyotrophic-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-amyotrophic-syndrome\/","title":{"rendered":"\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4"},"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>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa411\u578b\uff08CMS11\uff09\u306f\u3001RAPSN\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u75be\u60a3\u3067\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u547c\u5438\u4e0d\u5168\u306a\u3069\u306e\u75c7\u72b6\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CMS11\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306e\u91cd\u8981\u6027\u3092\u7d39\u4ecb\u3057\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>RAPSN\uff5cCongenital Myasthenic Syndrome 11<\/p>\n\n\n\n<p><sup>Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency (CMS11); [Formerly: Myasthenic Syndrome, Congenital, Ie]<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa411\u578b\uff08Congenital Myasthenic Syndrome 11, CMS11\uff09\u306f\u3001RAPSN\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3088\u308a\u751f\u3058\u308b\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u5f8c\u30b7\u30ca\u30d7\u30b9\u969c\u5bb3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u3001\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u53d7\u5bb9\u4f53\uff08AChR\uff09\u306e\u30af\u30e9\u30b9\u30bf\u30ea\u30f3\u30b0\u3092\u5236\u5fa1\u3059\u308b43 kDa\u53d7\u5bb9\u4f53\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u30e9\u30d7\u30b7\u30f3, rapsyn\uff09\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u3002\u30e9\u30d7\u30b7\u30f3\u306fAChR\u3092\u7d30\u80de\u9aa8\u683c\u3068\u7d50\u5408\u3055\u305b\u308b\u5f79\u5272\u3092\u6301\u3061\u3001\u305d\u306e\u6b20\u640d\u3084\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u795e\u7d4c\u7b4b\u4f1d\u9054\u306e\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>CMS\u306f\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u3067\u306f\u306a\u304f\u3001\u5148\u5929\u7684\u306a\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u308b\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u75b2\u52b4\u3057\u3084\u3059\u3044\u7b4b\u529b\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002CMS11\u3067\u306f\u3001\u7279\u306b\u8ef8\u6027\u7b4b\u3084\u56db\u80a2\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b\uff08\u4e73\u5150\u671f\u767a\u75c7\u578b\u3067\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3092\u4f34\u3046\uff09\u3001\u773c\u7b4b\u306e\u969c\u5bb3\uff08\u773c\u77bc\u4e0b\u5782\u3084\u773c\u7403\u904b\u52d5\u969c\u5bb3\uff09\u3001\u304a\u3088\u3073\u9854\u9762\u30fb\u7403\u9ebb\u75fa\uff08\u56a5\u4e0b\u969c\u5bb3\u3084\u767a\u58f0\u969c\u5bb3\uff09\u304c\u307f\u3089\u308c\u308b\u3002\u75c7\u72b6\u306f\u5909\u52d5\u6027\u304c\u3042\u308a\u3001\u8eab\u4f53\u6d3b\u52d5\u306b\u3088\u308a\u60aa\u5316\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>CMS\u306e\u6709\u75c5\u7387\u306f\u5730\u57df\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u82f1\u56fd\u306e18\u6b73\u672a\u6e80\u306eCMS\u60a3\u8005123\u4f8b\u306e\u89e3\u6790\u3067\u306f\u3001\u6709\u75c5\u7387\u306f200\u4e07\u4eba\u306b\u5bfe\u30572.8\uff5e14.8\u4f8b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\uff08\u5e73\u57479.2\u4f8b\/100\u4e07\u4eba\uff09\u3002\u3053\u306e\u5024\u306f\u3001\u540c\u5730\u57df\u306b\u304a\u3051\u308b\u82e5\u5e74\u6027\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\uff08juvenile MG\uff09\u306e\u6709\u75c5\u73871.5\u4f8b\/100\u4e07\u4eba\u3068\u6bd4\u8f03\u3057\u3066\u7d046\u500d\u9ad8\u3044\u3002\u307e\u305f\u3001\u30d6\u30e9\u30b8\u30eb\uff0822\u4f8b\uff09\u3001\u30b9\u30ed\u30d9\u30cb\u30a2\uff088\u4f8b\uff09\u3001\u30b9\u30da\u30a4\u30f3\uff0864\u4f8b\uff09\u306a\u3069\u3067\u3082\u6709\u75c5\u7387\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u305e\u308c1.8\u4f8b\/100\u4e07\u4eba\u300122.2\u4f8b\/100\u4e07\u4eba\u30011.8\u4f8b\/100\u4e07\u4eba\u3067\u3042\u3063\u305f\u3002\u3057\u304b\u3057\u3001\u3044\u305a\u308c\u306e\u7814\u7a76\u3082\u672a\u8a3a\u65ad\u4f8b\u306e\u5b58\u5728\u306b\u3088\u308a\u6709\u75c5\u7387\u304c\u904e\u5c0f\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>CMS\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f35\u7a2e\u985e\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u3067RAPSN\u3001DOK7\u3001CHRNE\u3001COLQ\u3001GFPT1\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u304c\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u306b\u8a8d\u3081\u3089\u308c\u308b\u3002\u7279\u306bRAPSN p.Asn88Lys\u5909\u7570\u306f\u3001\u897f\u6b27\u304a\u3088\u3073\u4e2d\u592e\u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u96c6\u56e3\u306b\u304a\u3044\u3066\u5275\u59cb\u8005\u52b9\u679c\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>RAPSN\u907a\u4f1d\u5b50\u306f\u30e9\u30d7\u30b7\u30f3\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u306fAChR\u306e\u7d30\u80de\u819c\u3078\u306e\u56fa\u5b9a\u3068\u30af\u30e9\u30b9\u30bf\u30ea\u30f3\u30b0\u3092\u62c5\u3046\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3042\u308b\u3002\u30e9\u30d7\u30b7\u30f3\u306f\u3001\u7b4b\u7279\u7570\u7684\u30ad\u30ca\u30fc\u30bc\uff08MuSK\uff09\u7d4c\u8def\u3092\u4ecb\u3057\u3066AChR\u3068\u7d50\u5408\u3057\u3001\u03b2\u30ab\u30c6\u30cb\u30f3\uff08CTNNB1\uff09\u304a\u3088\u3073\u30af\u30ed\u30e2\u30c9\u30e1\u30a4\u30f3\u30d8\u30ea\u30ab\u30fc\u30bcDNA\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea8\uff08CHD8\uff09\u3068\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u3053\u3068\u3067\u30b7\u30ca\u30d7\u30b9\u69cb\u9020\u3092\u5b89\u5b9a\u5316\u3055\u305b\u308b\u3002<\/p>\n\n\n\n<p>RAPSN\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u3046\u3061\u3001\u3044\u304f\u3064\u304b\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u81ea\u5df1\u30af\u30e9\u30b9\u30bf\u30ea\u30f3\u30b0\u6a5f\u80fd\u3092\u4fdd\u6301\u3057\u3066\u3044\u308b\u304c\u3001\u4e00\u90e8\u306e\u5909\u7570\u306f\u3053\u306e\u6a5f\u80fd\u3092\u55aa\u5931\u3057\u3066\u3044\u308b\u3002\u7279\u306bp.N88K\u5909\u7570\u306f\u3001\u30e9\u30d7\u30b7\u30f3\u306e\u81ea\u5df1\u30af\u30e9\u30b9\u30bf\u30ea\u30f3\u30b0\u304a\u3088\u3073E3\u30ea\u30ac\u30fc\u30bc\u6d3b\u6027\u3092\u4f4e\u4e0b\u3055\u305b\u3001NMJ\u306e\u5f62\u6210\u3092\u963b\u5bb3\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>CMS11\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u795e\u7d4c\u7b4b\u63a5\u5408\u90e8\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308b\u7b4b\u529b\u4f4e\u4e0b\u304a\u3088\u3073\u7b4b\u75b2\u52b4\u3092\u7279\u5fb4\u3068\u3057\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u529b\u4f4e\u4e0b\u304a\u3088\u3073\u7b4b\u75b2\u52b4<\/strong>\uff1a\u8eab\u4f53\u6d3b\u52d5\u306b\u4f34\u3046\u75c7\u72b6\u306e\u60aa\u5316<\/li>\n\n\n\n<li><strong>\u773c\u7b4b\u306e\u969c\u5bb3<\/strong>\uff1a\u773c\u77bc\u4e0b\u5782\u3001\u773c\u7403\u904b\u52d5\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u9854\u9762\u304a\u3088\u3073\u7403\u9ebb\u75fa<\/strong>\uff1a\u69cb\u97f3\u969c\u5bb3\u3001\u56a5\u4e0b\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u547c\u5438\u7b4b\u969c\u5bb3<\/strong>\uff1a\u4e73\u5150\u671f\u306e\u547c\u5438\u4e0d\u5168\u3001\u53cd\u5fa9\u6027\u306e\u547c\u5438\u4e0d\u5168\u30a8\u30d4\u30bd\u30fc\u30c9<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u62d8\u7e2e\uff08\u95a2\u7bc0\u5f37\u76f4\u75c7\uff09<\/strong>\uff1a\u65b0\u751f\u5150\u671f\u306b\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u3092\u4f34\u3046\u5834\u5408\u3042\u308a<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001CMS\u60a3\u8005\u306e\u7d0420\uff05\u306fRAPSN\u5909\u7570\u3092\u6709\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001RAPSN-CMS\u306e\u60a3\u8005\u306f\u65b0\u751f\u5150\u671f\u307e\u305f\u306f\u4e73\u5150\u671f\u306b\u547c\u5438\u4e0d\u5168\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\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>CMS11\u306e\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u624b\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\u7b4b\u529b\u4f4e\u4e0b\u3001\u773c\u77bc\u4e0b\u5782\u3001\u7b4b\u75b2\u52b4\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u53cd\u5fa9\u795e\u7d4c\u523a\u6fc0\u8a66\u9a13\uff08RNS\uff09\u306b\u3088\u308bCMAP\u306e\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\uff1aRAPSN\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/li>\n\n\n\n<li><strong>\u7b4b\u751f\u691c\u304a\u3088\u3073\u8d85\u5fae\u7d30\u69cb\u9020\u89e3\u6790<\/strong>\uff1aNMJ\u306e\u7570\u5e38\uff08\u526f\u6b21\u30b7\u30ca\u30d7\u30b9\u6e9d\u306e\u6e1b\u5c11\u306a\u3069\uff09<\/li>\n<\/ol>\n\n\n\n<p>CMS\u306f\u91cd\u75c7\u7b4b\u7121\u529b\u75c7\uff08MG\uff09\u3084Lambert-Eaton\u75c7\u5019\u7fa4\uff08LEMS\uff09\u3068\u9451\u5225\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u3002\u307e\u305f\u3001\u4e00\u90e8\u306eCMS\u60a3\u8005\u3067\u306f\u8840\u6e05\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u5024\u304c\u4e0a\u6607\u3059\u308b\u3053\u3068\u304c\u3042\u308b\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>CMS11\u306e\u6cbb\u7642\u306f\u3001\u795e\u7d4c\u7b4b\u4f1d\u9054\u3092\u6539\u5584\u3059\u308b\u85ac\u5264\u306e\u4f7f\u7528\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d4\u30ea\u30c9\u30b9\u30c1\u30b0\u30df\u30f3\uff08\u6297\u30b3\u30ea\u30f3\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc\u85ac\uff09<\/strong>\uff1a\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b<\/li>\n\n\n\n<li><strong>\u30b5\u30eb\u30d6\u30bf\u30e2\u30fc\u30eb\uff08\u30a2\u30eb\u30d6\u30c6\u30ed\u30fc\u30eb\uff09<\/strong>\uff1a\u4ea4\u611f\u795e\u7d4c\u4f5c\u7528\u306b\u3088\u308bNMJ\u6a5f\u80fd\u306e\u6539\u5584<\/li>\n\n\n\n<li><strong>\u30a8\u30d5\u30a7\u30c9\u30ea\u30f3<\/strong>\uff1a\u7279\u5b9a\u306eCMS\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u6709\u52b9<\/li>\n\n\n\n<li><strong>\u30a2\u30df\u30d5\u30a1\u30f3\u30d7\u30ea\u30b8\u30f3<\/strong>\uff1a\u4e00\u90e8\u306eCMS\u60a3\u8005\u306b\u6709\u52b9<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u91cd\u5ea6\u306e\u547c\u5438\u7b4b\u969c\u5bb3\u304c\u3042\u308b\u60a3\u8005\u306b\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u4fb5\u8972\u7684\u4eba\u5de5\u547c\u5438\uff08NIV\uff09<\/strong>\uff1a\u591c\u9593\u4f4e\u63db\u6c17\u306e\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u6c17\u7ba1\u5207\u958b<\/strong>\uff1a\u91cd\u7be4\u306a\u547c\u5438\u4e0d\u5168\u4f8b\u3067\u691c\u8a0e<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u304a\u3088\u3073\u9069\u5207\u306a\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>RAPSN-CMS\u306f\u4e00\u822c\u306b\u6162\u6027\u306e\u7d4c\u904e\u3092\u305f\u3069\u308b\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u308a\u7b4b\u529b\u4f4e\u4e0b\u306e\u9032\u884c\u3092\u6291\u3048\u3001\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002\u5c0f\u5150\u671f\u306b\u306f\u547c\u5438\u4e0d\u5168\u30a8\u30d4\u30bd\u30fc\u30c9\u304c\u591a\u3044\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u983b\u5ea6\u304c\u4f4e\u4e0b\u3059\u308b\u50be\u5411\u304c\u3042\u308b\u3002\u4e00\u65b9\u3067\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306e\u547c\u5438\u6a5f\u80fd\u4f4e\u4e0b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u547c\u5438\u6a5f\u80fd\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u5c55\u306b\u3088\u308a\u8a3a\u65ad\u7cbe\u5ea6\u304c\u5411\u4e0a\u3057\u3066\u304a\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u304a\u3088\u3073\u6cbb\u7642\u958b\u59cb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u3044\u308b\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u542b\u3081\u305f\u5305\u62ec\u7684\u306a\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\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\/10.3390\/ijms24043730\">Ohno, K., Ohkawara, B., Shen, X.-M., Selcen, D., &amp; Engel, A. G. (2023). Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes\u2014A comprehensive review. <em>International Journal of Molecular Sciences<\/em>, <em>24<\/em>(4), 3730. https:\/\/doi.org\/10.3390\/ijms24043730<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1212\/wnl.98.18_supplement.495\">Reid, G., Psychogios, A., Supinger, R., &amp; Set, K. (2022). A rare case of congenital myasthenia syndrome 11 caused by a novel mutation in RAPSN diagnosed with rapid whole genome sequencing (rwgs). (p18-5.004). <em>Neurology<\/em>, <em>98<\/em>(18_supplement). https:\/\/doi.org\/10.1212\/wnl.98.18_supplement.495<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3233\/JND-221542\">Kramer, J. J., Boon, H. T. M., Leijten, Q. H., Ter Laak, H., Eshuis, L., Kusters, B., Van Doorn, J. L. M., Kamsteeg, E. J., Eymard, B., Doorduin, J., &amp; Voermans, N. C. (2023). Dystrophic myopathy of the diaphragm with recurrent severe respiratory failure is congenital myasthenic syndrome 11. <em>Journal of Neuromuscular Diseases<\/em>, <em>10<\/em>(2), 271\u2013277. https:\/\/doi.org\/10.3233\/JND-221542<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/braincomms\/fcad299\">Poulos, J., Samuels, M., Palace, J., Beeson, D., Robb, S., Ramdas, S., Chan, S., &amp; Munot, P. (2023). Congenital myasthenic syndromes: A retrospective natural history study of respiratory outcomes in a single centre. <em>Brain Communications<\/em>, <em>5<\/em>(6), fcad299. https:\/\/doi.org\/10.1093\/braincomms\/fcad299<\/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><sup>\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4, CMS11, RAPSN, \u795e\u7d4c\u7b4b\u63a5\u5408\u90e8, \u7b4b\u529b\u4f4e\u4e0b, \u547c\u5438\u4e0d\u5168, \u30d4\u30ea\u30c9\u30b9\u30c1\u30b0\u30df\u30f3, \u907a\u4f1d\u6027\u75be\u60a3, AChR\u6b20\u4e4f, \u795e\u7d4c\u7b4b\u75be\u60a3, \u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb, \u907a\u4f1d\u5b50\u5909\u7570<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60120","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\/60120","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":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60120\/revisions"}],"predecessor-version":[{"id":128058,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60120\/revisions\/128058"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60120"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}