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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u539f\u56e0\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u306e\u652f\u63f4\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u5c0f\u5150\u79d1\u3001\u5f62\u6210\u5916\u79d1\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u3001\u773c\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u304c\u5354\u529b\u3057\u3066\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406<\/strong>\uff1a\u820c\u306e\u843d\u3061\u8fbc\u307f\u3067\u606f\u304c\u3057\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u3046\u3064\u3076\u305b\u5bdd\u306e\u5de5\u592b\u3084\u547c\u5438\u306e\u88dc\u52a9\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5916\u79d1\u7684\u306a\u51e6\u7f6e\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u306e\u652f\u63f4<\/strong>\uff1a\u54fa\u4e73\u306e\u5de5\u592b\u3084\u7d4c\u7ba1\u6804\u990a\u3067\u3001\u4f53\u91cd\u306e\u5897\u52a0\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\u306e\u624b\u8853<\/strong>\u3068\u3001\u305d\u306e\u5f8c\u306e\u8a00\u8449\u306e\u8a13\u7df4<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3059\u7406\u5b66\u7642\u6cd5\u3001\u98df\u3079\u308b\u30fb\u8a71\u3059\u305f\u3081\u306e\u8a13\u7df4<\/li>\n\n\n\n<li><strong>\u76ee\u30fb\u8db3\u30fb\u80cc\u9aa8\u306e\u7d4c\u904e\u89b3\u5bdf<\/strong>\uff1a\u773c\u77bc\u4e0b\u5782\u3001\u5185\u53cd\u8db3\u3001\u5074\u5f2f\u306b\u5bfe\u3057\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u7642\u80b2\u3084\u5c31\u5712\u30fb\u5c31\u5b66\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7<\/li>\n\n\n<\/ul>\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<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>MYMK<\/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\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\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<p class=\"wp-block-paragraph\">\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>MYMK<\/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<p class=\"wp-block-paragraph\">\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\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>MYMK<\/strong>\uff08Myomaker\u3001\u65e7\u79f0 TMEM8C\uff09\u306f<strong>\u7b4b\u82bd\u7d30\u80de\u819c\u306b\u5c40\u5728\u3059\u308b\u591a\u56de\u819c\u8cab\u901a\u578b\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3001Myomerger\uff08<em>MYMX<\/em>\uff09\u3068\u5354\u8abf\u3057\u3066<strong>\u7b4b\u82bd\u7d30\u80de\u878d\u5408\u3068\u591a\u6838\u7b4b\u7dda\u7dad\u306e\u5f62\u6210\u306b\u5fc5\u9808<\/strong>\u306e\u5f79\u5272\u3092\u62c5\u3046\u3002\u30de\u30a6\u30b9\u3067\u306f\u5b8c\u5168\u6b20\u640d\u306b\u3088\u308a\u7b4b\u7dda\u7dad\u304c\u5f62\u6210\u3055\u308c\u305a\u5468\u7523\u671f\u81f4\u6b7b\u3068\u306a\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u30b1\u30a2\u30ea\u30fc\u30fb\u30d5\u30a1\u30a4\u30f3\u30de\u30f3\u30fb\u30b8\u30c3\u30bf\u30fc\u75c7\u5019\u7fa4\uff08CFZS1\uff09\u306f\u30012017\u5e74\u306b MYMK \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570\u304c\u539f\u56e0\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u305f<\/strong>\u3002\u5831\u544a\u3055\u308c\u305f\u5909\u7570\u306e\u591a\u304f\u306f<strong>\u6a5f\u80fd\u3092\u90e8\u5206\u7684\u306b\u6b8b\u3059\u4f4e\u5f62\u6210\uff08hypomorphic\uff09\u30a2\u30ec\u30eb<\/strong>\u3067\u3042\u308a\u3001\u878d\u5408\u80fd\u306e\u4f4e\u4e0b\u304c\u6b8b\u5b58\u3059\u308b\u3053\u3068\u3067\u751f\u5b58\u53ef\u80fd\u306a\u8868\u73fe\u578b\u3068\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u81e8\u5e8a\u7684\u306b\u306f<strong>\u975e\u9032\u884c\u6027\u306e\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u306b\u3001\u30e1\u30d3\u30a6\u30b9\u69d8\u306e\u9854\u9762\u7b4b\u30fb\u5916\u773c\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b\u3068\u30ed\u30d0\u30f3\u9023\u9396\u3092\u4f34\u3046<\/strong>\u306e\u304c\u4e2d\u6838\u3067\u3001\u7b4b\u751f\u691c\u3067\u306f\u7b4b\u7dda\u7dad\u5f84\u306e\u5927\u5c0f\u4e0d\u540c\u306a\u3069\u306e\u30df\u30aa\u30d1\u30c1\u30fc\u6240\u898b\u3092\u793a\u3059\u3002\u5916\u773c\u7b4b\u30fb\u9854\u9762\u7b4b\u969c\u5bb3\u304c\u8133\u795e\u7d4c\u6838\u306e\u7570\u5e38\u3067\u306f\u306a\u304f\u7b4b\u539f\u6027\u306b\u751f\u3058\u308b\u70b9\u3067\u3001\u53e4\u5178\u7684\u306a\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u75c5\u614b\u304c\u7570\u306a\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff08\u591a\u304f\u306f\u5b64\u767a\u4f8b\uff09\u3001\u5148\u5929\u6027\u7b4b\u5f37\u76f4\u6027\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08<em>DMPK<\/em>\uff09\u3001<em>STAC3<\/em> \u95a2\u9023\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\uff08\u30cd\u30a4\u30c6\u30a3\u30d6\u30a2\u30e1\u30ea\u30ab\u30f3\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u3001<em>RYR1<\/em> \u95a2\u9023\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\u3001\u30ed\u30d0\u30f3\u9023\u9396\u3092\u4f34\u3046\u307b\u304b\u306e\u75c7\u5019\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u7387\u3001\u5408\u4f75\u75c7\uff08\u60aa\u6027\u9ad8\u71b1\u75c7\u306e\u30ea\u30b9\u30af\u306a\u3069\uff09\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5468\u8853\u671f\u7ba1\u7406\u306e\u53cc\u65b9\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u4f3c\u305f\u75c7\u72b6\u3092\u3082\u3064\u75c5\u6c17\u306b\u306f\u3001\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u3082\u306e\u3084\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308b\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5c0f\u3055\u306a\u3042\u3054\u3084\u7f8a\u6c34\u904e\u591a\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u4e2d\u306b\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u7b4b\u8089\u306e\u5f31\u3055\u306f\u3060\u3093\u3060\u3093\u60aa\u304f\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306e\u7b4b\u8089\u306e\u5f31\u3055\u306f\u9032\u884c\u3057\u306b\u304f\u304f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u904b\u52d5\u306e\u529b\u304c\u4f38\u3073\u3066\u3044\u304f\u65b9\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u306a\u3069\u304c\u51fa\u3066\u304f\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u591a\u304f\u306e\u5834\u5408\u3001\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u8868\u60c5\u304c\u4e4f\u3057\u304f\u8a71\u3057\u306b\u304f\u3044\u3053\u3068\u304b\u3089\u3001\u6c17\u6301\u3061\u3084\u7406\u89e3\u529b\u304c\u5b9f\u969b\u3088\u308a\u4f4e\u304f\u898b\u3089\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8449\u306e\u8a13\u7df4\u3084\u5468\u56f2\u306e\u7406\u89e3\u304c\u3001\u304a\u5b50\u3055\u307e\u306e\u751f\u6d3b\u3092\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Di Gioia SA, Connors S, Matsunami N, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. <em>Nat Commun<\/em>. 2017;8:16077.<\/li>\n\n\n\n<li>Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. <em>J Pediatr<\/em>. 1982;101(5):858-864.<\/li>\n\n\n\n<li>Millay DP, O&#8217;Rourke JR, Sutherland LB, et al. Myomaker is a membrane activator of myoblast fusion and muscle formation. <em>Nature<\/em>. 2013;499(7458):301-305.<\/li>\n\n\n\n<li>OMIM #254940 Carey-Fineman-Ziter syndrome 1; CFZS1. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM *615345 Myomaker, myoblast fusion factor; MYMK. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147769","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\/147769","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147769\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147769"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}