{"id":136695,"date":"2026-09-08T12:23:11","date_gmt":"2026-09-08T03:23:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136695"},"modified":"2026-09-08T12:23:11","modified_gmt":"2026-09-08T03:23:11","slug":"multiminicore-disease-ryr1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/multiminicore-disease-ryr1\/","title":{"rendered":"\u30de\u30eb\u30c1\u30df\u30cb\u30b3\u30a2\u75c5"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30de\u30eb\u30c1\u30df\u30cb\u30b3\u30a2\u75c5\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u7b4b\u8089\u306e\u529b\u304c\u5f31\u304f\u3001<strong>\u7b4b\u8089\u306e\u7d30\u80de\u306e\u306a\u304b\u306b\u300c\u30b3\u30a2\u300d\u3068\u547c\u3070\u308c\u308b\u5c0f\u3055\u306a\u5909\u5316\u304c\u591a\u6570\u307f\u3089\u308c\u308b<\/strong>\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3067\u3059\u3002<strong>RYR1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308b\u5834\u5408\u3001\u591a\u304f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u3067\u3082\u3063\u3068\u3082\u5927\u5207\u306a\u6ce8\u610f\u70b9\u306f\u3001\u5168\u8eab\u9ebb\u9154\u3067\u300c\u60aa\u6027\u9ad8\u71b1\u75c7\u300d\u3092\u8d77\u3053\u3059\u30ea\u30b9\u30af\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002<\/strong>\u624b\u8853\u3084\u6b6f\u79d1\u6cbb\u7642\u306e\u969b\u306b\u306f\u3001\u5fc5\u305a\u75c5\u540d\u3092\u4f1d\u3048\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>RYR1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u9aa8\u683c\u7b4b\u306e\u7d30\u80de\u306b\u3042\u308b\u30ea\u30a2\u30ce\u30b8\u30f3\u53d7\u5bb9\u4f531\u3068\u3044\u3046\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u653e\u51fa\u53e3\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u7b4b\u8089\u306f\u3001\u3053\u306e\u653e\u51fa\u53e3\u304b\u3089\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u51fa\u308b\u3053\u3068\u3067\u53ce\u7e2e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u7b4b\u8089\u304c\u5341\u5206\u306b\u53ce\u7e2e\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001<strong>\u7279\u5b9a\u306e\u9ebb\u9154\u85ac\uff08\u63ee\u767a\u6027\u5438\u5165\u9ebb\u9154\u85ac\u3001\u30b9\u30ad\u30b5\u30e1\u30c8\u30cb\u30a6\u30e0\uff09\u306b\u3088\u3063\u3066\u653e\u51fa\u53e3\u304c\u958b\u304d\u3063\u3071\u306a\u3057\u306b\u306a\u308a\u3001\u60aa\u6027\u9ad8\u71b1\u75c7\u3092\u8d77\u3053\u3059<\/strong>\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u306e<strong>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b<\/strong>\uff08\u4f53\u304c\u3084\u308f\u3089\u304b\u3044\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\uff08\u9996\u3059\u308f\u308a\u3001\u304a\u3059\u308f\u308a\u3001\u6b69\u884c\u306e\u9045\u308c\uff09<\/li>\n\n\n\n<li>\u4f53\u5e79\u30fb\u80a9\u30fb\u80a1\u95a2\u7bc0\u307e\u308f\u308a\u306e\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f<\/strong>\uff08\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u547c\u5438\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>\uff08\u591c\u9593\u306e\u4f4e\u63db\u6c17\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u62d8\u7e2e<\/li>\n\n\n\n<li><strong>\u773c\u7403\u904b\u52d5\u969c\u5bb3\uff08\u773c\u7b4b\u9ebb\u75fa\uff09<\/strong>\u3092\u4f34\u3046\u578b\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u60aa\u6027\u9ad8\u71b1\u75c7\u306e\u30ea\u30b9\u30af<\/strong><\/li>\n\n\n\n<li>\u77e5\u80fd\u306f\u4fdd\u305f\u308c\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u7b4b\u529b\u4f4e\u4e0b\u306e\u69d8\u5b50\u3001\u8840\u6db2\u691c\u67fb\uff08CK\u306f\u6b63\u5e38\u301c\u8efd\u5ea6\u4e0a\u6607\uff09\u3001\u7b4bMRI\uff08\u7279\u5fb4\u7684\u306a\u7b4b\u306e\u969c\u5bb3\u30d1\u30bf\u30fc\u30f3\uff09\u3001\u7b4b\u751f\u691c\uff08\u591a\u6570\u306e\u30df\u30cb\u30b3\u30a2\uff09\u304b\u3089\u8a3a\u65ad\u3057\u307e\u3059\u3002<strong>RYR1<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>SELENON\uff08SEPN1\uff09<\/strong> \u304c\u539f\u56e0\u306e\u578b\u3082\u3042\u308a\u3001\u533a\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li><strong>\u60aa\u6027\u9ad8\u71b1\u75c7\u3092\u907f\u3051\u308b\u305f\u3081\u306e\u9ebb\u9154\u7ba1\u7406\uff08\u3082\u3063\u3068\u3082\u91cd\u8981\u3067\u3059\uff09<\/strong>\uff1a\u63ee\u767a\u6027\u5438\u5165\u9ebb\u9154\u85ac\u3068\u30b9\u30ad\u30b5\u30e1\u30c8\u30cb\u30a6\u30e0\u3092\u4f7f\u308f\u306a\u3044\u9ebb\u9154\u3092\u9078\u3073\u307e\u3059<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u88c5\u5177\u306b\u3088\u308b\u95a2\u7bc0\u62d8\u7e2e\u306e\u4e88\u9632<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u306b\u5bfe\u3059\u308b\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853<\/strong><\/li>\n\n\n\n<li><strong>\u547c\u5438\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong>\uff08\u591c\u9593\u306e\u4f4e\u63db\u6c17\u306b\u5bfe\u3059\u308b\u975e\u4fb5\u8972\u7684\u63db\u6c17\u7642\u6cd5\uff09<\/li>\n\n\n\n<li>\u6804\u990a\u306e\u7ba1\u7406\u3001\u56a5\u4e0b\u306e\u8a55\u4fa1<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>RYR1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>RYR1<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30de\u30eb\u30c1\u30df\u30cb\u30b3\u30a2\u75c5\uff08multiminicore disease, MmD\uff09\u306f\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u4e00\u7fa4\u3067\u3001\u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u3057\u3066 <strong>RYR1<\/strong>\uff0819q13.2\uff09\u3068 <strong>SELENON\uff08SEPN1\uff09<\/strong>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a>.11\uff09\u304c\u4e3b\u8981\u3067\u3042\u308b\u3002RYR1\u95a2\u9023\u4f8b\u306e\u591a\u304f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3067\u3001\u4e2d\u5fc3\u30b3\u30a2\u75c5\uff08\u591a\u304f\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff09\u3068\u306f\u907a\u4f1d\u5f62\u5f0f\u30fb\u81e8\u5e8a\u50cf\u304c\u7570\u306a\u308b\u3002<\/p>\n\n\n\n<p>RYR1\u306f\u7b4b\u5c0f\u80de\u4f53\u306eCa2+\u653e\u51fa\u30c1\u30e3\u30cd\u30eb\u3067\u3001\u8208\u596e\u53ce\u7e2e\u9023\u95a2\u306e\u4e2d\u5fc3\u3092\u62c5\u3046\u3002\u6f5c\u6027\u578b\u3067\u306f\u767a\u73fe\u91cf\u4f4e\u4e0b\u3084\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u3001Ca2+\u653e\u51fa\u304c\u6e1b\u5c11\u3057\u3066\u7b4b\u529b\u4f4e\u4e0b\u3092\u304d\u305f\u3059\u3002<\/p>\n\n\n\n<p><strong>\u81e8\u5e8a\u4e0a\u3082\u3063\u3068\u3082\u91cd\u8981\u306a\u306e\u306f\u60aa\u6027\u9ad8\u71b1\u75c7\uff08MH\uff09\u611f\u53d7\u6027\u3067\u3042\u308b\u3002<\/strong>RYR1\u5909\u7570\u306fMH\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308a\u3001\u63ee\u767a\u6027\u5438\u5165\u9ebb\u9154\u85ac\u30fb\u8131\u5206\u6975\u6027\u7b4b\u5f1b\u7de9\u85ac\u306e\u4f7f\u7528\u3067\u81f4\u6b7b\u7684\u306a\u9ad8\u4f53\u6e29\u30fb\u7b4b\u5f37\u76f4\u30fb\u6a2a\u7d0b\u7b4b\u878d\u89e3\u3092\u8d77\u3053\u3057\u3046\u308b\u3002<strong>\u672c\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u305f\u6642\u70b9\u3067\u3001\u9ebb\u9154\u8a18\u9332\u3078\u306e\u660e\u793a\u3068MH\u975e\u8a98\u767a\u9ebb\u9154\uff08TIVA\uff09\u306e\u6e96\u5099\u304c\u5fc5\u9808<\/strong>\u3067\u3042\u308b\u3002\u30c0\u30f3\u30c8\u30ed\u30ec\u30f3\u306e\u5e38\u5099\u3082\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>RYR1\u95a2\u9023\u4f8b\u3067\u306f\u773c\u7b4b\u9ebb\u75fa\u306e\u5408\u4f75\u304c\u5831\u544a\u3055\u308c\u308b\u4e00\u65b9\u3001SELENON\u95a2\u9023\u4f8b\u3067\u306f\u65e9\u671f\u304b\u3089\u306e\u810a\u67f1\u786c\u76f4\uff08rigid spine\uff09\u3068\u547c\u5438\u4e0d\u5168\u304c\u524d\u666f\u306b\u7acb\u3064\u3002\u4e88\u5f8c\u3092\u898f\u5b9a\u3059\u308b\u306e\u306f\u547c\u5438\u6a5f\u80fd\u3068\u5074\u5f2f\u3067\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u624b\u8853\u3092\u53d7\u3051\u308b\u3068\u304d\u306b\u6ce8\u610f\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u5fc5\u305a\u3053\u306e\u75c5\u6c17\u3067\u3042\u308b\u3053\u3068\u3092\u3001\u9ebb\u9154\u79d1\u306e\u5148\u751f\u306b\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/strong>\u7279\u5b9a\u306e\u9ebb\u9154\u85ac\u3067\u60aa\u6027\u9ad8\u71b1\u75c7\u3068\u3044\u3046\u91cd\u3044\u5408\u4f75\u75c7\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u5225\u306e\u9ebb\u9154\u65b9\u6cd5\u3092\u9078\u3076\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u6b6f\u79d1\u6cbb\u7642\u3067\u3082\u540c\u69d8\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u60aa\u6027\u9ad8\u71b1\u75c7\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9ebb\u9154\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u6025\u6fc0\u306a\u4f53\u6e29\u4e0a\u6607\u3001\u7b4b\u8089\u306e\u786c\u76f4\u3001\u7b4b\u8089\u306e\u5d29\u58ca\u304c\u8d77\u3053\u308b\u3001\u547d\u306b\u304b\u304b\u308f\u308b\u72b6\u614b\u3067\u3059\u3002\u3042\u3089\u304b\u3058\u3081\u5206\u304b\u3063\u3066\u3044\u308c\u3070\u3001\u907f\u3051\u3089\u308c\u308b\u9ebb\u9154\u65b9\u6cd5\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u904b\u52d5\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u7b4b\u529b\u306b\u5fdc\u3058\u305f\u904b\u52d5\u306f\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u6fc0\u3057\u3044\u904b\u52d5\u3084\u9ad8\u6e29\u306e\u74b0\u5883\u3067\u306e\u904b\u52d5\u306f\u907f\u3051\u305f\u307b\u3046\u304c\u3088\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u62c5\u5f53\u306e\u5148\u751f\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u547c\u5438\u306e\u691c\u67fb\u306f\u306a\u305c\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u591c\u9593\u306e\u547c\u5438\u304c\u6d45\u304f\u306a\u308b\u3053\u3068\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u81ea\u899a\u3057\u306b\u304f\u3044\u305f\u3081\u3067\u3059\u3002\u5b9a\u671f\u7684\u306b\u8abf\u3079\u3066\u304a\u304f\u3068\u3001\u5fc5\u8981\u306a\u6642\u671f\u306b\u5bfe\u5fdc\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5f71\u97ff\u3057\u307e\u305b\u3093\u3002\u3053\u306e\u75c5\u6c17\u3067\u5f31\u304f\u306a\u308b\u306e\u306f\u7b4b\u8089\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Jungbluth H, Zhou H, Hartley L, et al. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. <em>Neurology<\/em>. 2005;65(12):1930-1935.<\/li>\n\n\n\n<li>Jungbluth H, Treves S, Zorzato F, et al. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. <em>Nat Rev Neurol<\/em>. 2018;14(3):151-167.<\/li>\n\n\n\n<li>Rosenberg H, Pollock N, Schiemann A, et al. Malignant hyperthermia: a review. <em>Orphanet J Rare Dis<\/em>. 2015;10:93.<\/li>\n\n\n\n<li>Ferreiro A, Estournet B, Chateau D, et al. Multi-minicore disease&#8211;searching for boundaries: phenotype analysis of 38 cases. <em>Ann Neurol<\/em>. 2000;48(5):745-757.<\/li>\n\n\n\n<li>OMIM #255320 Minicore myopathy with external ophthalmoplegia<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136695","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\/136695","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136695\/revisions"}],"predecessor-version":[{"id":137065,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136695\/revisions\/137065"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136695"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}