{"id":33780,"date":"2022-07-12T13:31:30","date_gmt":"2022-07-12T04:31:30","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33780"},"modified":"2026-04-28T12:50:57","modified_gmt":"2026-04-28T03:50:57","slug":"inclusion-body-myopathy-type-2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/inclusion-body-myopathy-type-2\/","title":{"rendered":"\u5c01\u5165\u4f53\u30df\u30aa\u30d1\u30c1\u30fc\u2161\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>GNE\u30df\u30aa\u30d1\u30c1\u30fc\uff08\u91ce\u4e2d\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u306f\u3001GNE\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u7b4b\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u4e0b\u80a2\u306e\u7b4b\u529b\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308a\u3001\u5f90\u3005\u306b\u9032\u884c\u3057\u307e\u3059\u304c\u3001\u5927\u817f\u56db\u982d\u7b4b\u306f\u6bd4\u8f03\u7684\u6e29\u5b58\u3055\u308c\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GNE\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u9032\u5c55\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\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>GNE\uff5cInclusion Body Myopathy Type 2<\/p>\n\n\n\n<p><sup>Nonaka Myopathy; Gne Myopathy; Distal Myopathy with Rimmed Vacuoles; Distal Myopathy, Nonaka Type; Quadriceps-Sparing Myopathy<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>GNE\u30df\u30aa\u30d1\u30c1\u30fc\uff08GNE\u7b4b\u75c7\uff09\u306f\u3001\u30a4\u30f3\u30af\u30eb\u30fc\u30b8\u30e7\u30f3\u30dc\u30c7\u30a3\u30df\u30aa\u30d1\u30c1\u30fc2\u578b\uff08IBM2\uff09\u3001\u91ce\u4e2d\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7e01\u53d6\u308a\u7a7a\u80de\u3092\u4f34\u3046\u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff08DMRV\uff09\u3001\u907a\u4f1d\u6027\u30a4\u30f3\u30af\u30eb\u30fc\u30b8\u30e7\u30f3\u30dc\u30c7\u30a3\u30df\u30aa\u30d1\u30c1\u30fc\uff08HIBM\uff09\u3001\u5927\u817f\u56db\u982d\u7b4b\u6e29\u5b58\u578b\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u3082\u547c\u3070\u308c\u308b\u3001\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u795e\u7d4c\u7b4b\u75be\u60a3\u3067\u3042\u308b\u3002\u3053\u306e\u75c5\u6c17\u306fGNE\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30b7\u30a2\u30eb\u9178\u3068\u3044\u3046\u7cd6\u306e\u5408\u6210\u306b\u95a2\u4e0e\u3059\u308b\u4e8c\u6a5f\u80fd\u6027\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30b7\u30a2\u30eb\u9178\u306f\u7d30\u80de\u6a5f\u80fd\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3002GNE\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u3067\u3042\u308a\u3001\u7279\u306b\u9060\u4f4d\u7b4b\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u304c\u3001\u5927\u817f\u56db\u982d\u7b4b\u306f\u6bd4\u8f03\u7684\u6e29\u5b58\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u767a\u75c7\u306f\u901a\u5e38\u3001\u82e5\u5e74\u6210\u4eba\u671f\uff0820\u4ee3\u301c30\u4ee3\uff09\u3067\u3042\u308a\u3001\u5f90\u3005\u306b\u91cd\u75c7\u5316\u3057\u3066\u3044\u304f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>GNE\u30df\u30aa\u30d1\u30c1\u30fc\u306f\u4e16\u754c\u7684\u306b\u898b\u3089\u308c\u308b\u75be\u60a3\u3067\u3042\u308b\u304c\u3001\u4e00\u90e8\u306e\u96c6\u56e3\u3067\u306f\u7279\u5b9a\u306e\u907a\u4f1d\u7684\u8981\u56e0\uff08\u5275\u59cb\u8005\u5909\u7570\uff09\u306b\u3088\u308a\u767a\u75c7\u7387\u304c\u9ad8\u3044\u3002\u4e16\u754c\u5168\u4f53\u306e\u63a8\u5b9a\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u3042\u305f\u308a1\u301c9\u4eba\u3068\u3055\u308c\u308b\u3002\u7279\u306b\u4e2d\u6771\u306e\u30e6\u30c0\u30e4\u4eba\u3001\u65e5\u672c\u4eba\u3001\u30a4\u30f3\u30c9\u7cfb\u4f4f\u6c11\u3001\u30ed\u30de\u6c11\u65cf\u3067\u306f\u6709\u75c5\u7387\u304c\u9ad8\u304f\u3001\u305d\u308c\u305e\u308c\u306e\u96c6\u56e3\u306b\u7279\u6709\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002\u4f8b\u3048\u3070\u3001\u4e2d\u6771\u5730\u57df\u3067\u306fp.M743T\u5909\u7570\u3001\u65e5\u672c\u3067\u306fp.V603L\u5909\u7570\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u3002\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u8a3a\u65ad\u7387\u306e\u4f4e\u3055\u3084\u81e8\u5e8a\u7684\u8a8d\u8b58\u306e\u4e0d\u8db3\u306b\u3088\u308a\u3001\u5b9f\u969b\u306e\u60a3\u8005\u6570\u306f\u63a8\u5b9a\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u6307\u6458\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>GNE\u30df\u30aa\u30d1\u30c1\u30fc\u306f\u3001GNE\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3002GNE\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f539p12-13\u306b\u4f4d\u7f6e\u3057\u3001UDP-N-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f32-\u30a8\u30d4\u30e1\u30e9\u30fc\u30bc\u3068N-\u30a2\u30bb\u30c1\u30eb\u30de\u30f3\u30ce\u30b5\u30df\u30f3\u30ad\u30ca\u30fc\u30bc\u3068\u3044\u3046\u4e8c\u3064\u306e\u9175\u7d20\u6d3b\u6027\u3092\u6301\u3064\u3002\u3053\u306e\u9175\u7d20\u306f\u30b7\u30a2\u30eb\u9178\u306e\u751f\u5408\u6210\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3046\u3002GNE\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u7d4c\u8def\u304c\u969c\u5bb3\u3055\u308c\u3001\u30b7\u30a2\u30eb\u9178\u306e\u4e0d\u8db3\uff08\u4f4e\u30b7\u30a2\u30eb\u9178\u5316\uff09\u304c\u8d77\u3053\u308a\u3001\u7b4b\u7d44\u7e54\u306e\u5909\u6027\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u307e\u305f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u7570\u5e38\u3084\u7570\u5e38\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u84c4\u7a4d\u3001\u7d30\u80de\u9aa8\u683c\u306e\u5909\u5316\u306a\u3069\u3001\u4ed6\u306e\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\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>\u672c\u75be\u60a3\u306e\u521d\u767a\u75c7\u72b6\u306f\u3001\u8db3\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u7279\u306b\u524d\u811b\u9aa8\u7b4b\u306e\u840e\u7e2e\u306b\u3088\u308b\u8db3\u95a2\u7bc0\u80cc\u5c48\u969c\u5bb3\uff08\u30d5\u30c3\u30c8\u30c9\u30ed\u30c3\u30d7\uff09\u3067\u3042\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u3064\u307e\u305a\u304d\u3084\u3059\u304f\u306a\u308a\u3001\u968e\u6bb5\u306e\u6607\u964d\u304c\u56f0\u96e3\u306b\u306a\u308b\u3002\u75c7\u72b6\u306f\u5f90\u3005\u306b\u9032\u884c\u3057\u3001\u4e0b\u80a2\u5168\u4f53\u3084\u4e0a\u80a2\uff08\u7279\u306b\u624b\u6307\u306e\u7b4b\u8089\u3084\u6df1\u6307\u5c48\u7b4b\uff09\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002\u7279\u5fb4\u7684\u306a\u6240\u898b\u3068\u3057\u3066\u3001\u5927\u817f\u56db\u982d\u7b4b\u306f\u6bd4\u8f03\u7684\u6e29\u5b58\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u75be\u60a3\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u79fb\u52d5\u304c\u56f0\u96e3\u3068\u306a\u308a\u3001\u767a\u75c7\u304b\u308910\u301c20\u5e74\u4ee5\u5185\u306b\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u547c\u5438\u6a5f\u80fd\u306f\u901a\u5e38\u306f\u4fdd\u305f\u308c\u308b\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u8efd\u5ea6\u306e\u62d8\u675f\u6027\u80ba\u75be\u60a3\u3084\u7761\u7720\u6642\u7121\u547c\u5438\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u5fc3\u75be\u60a3\u306e\u5408\u4f75\u306f\u7a00\u3067\u3042\u308b\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\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>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u753b\u50cf\u8a3a\u65ad\u3001\u75c5\u7406\u7d44\u7e54\u5b66\u7684\u6240\u898b\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u308b\u3002\u8840\u6e05\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u5024\u306f\u6b63\u5e38\u304b\u3089\u8efd\u5ea6\u4e0a\u6607\u306e\u7bc4\u56f2\u306b\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u7b4b\u96fb\u56f3\uff08EMG\uff09\u3067\u306f\u30df\u30aa\u30d1\u30c1\u30fc\u6027\u5909\u5316\u304c\u8a8d\u3081\u3089\u308c\u3001MRI\u306b\u3088\u308b\u7b4b\u753b\u50cf\u3067\u306f\u524d\u811b\u9aa8\u7b4b\u306e\u9ad8\u5ea6\u306a\u840e\u7e2e\u3068\u5927\u817f\u56db\u982d\u7b4b\u306e\u76f8\u5bfe\u7684\u6e29\u5b58\u304c\u7279\u5fb4\u7684\u306b\u898b\u3089\u308c\u308b\u3002\u7b4b\u751f\u691c\u3067\u306f\u3001\u7e01\u53d6\u308a\u7a7a\u80de\uff08\u30ea\u30e0\u30c9\u30d0\u30ad\u30e5\u30aa\u30fc\u30eb\uff09\u3001\u7d30\u80de\u8cea\u5c01\u5165\u4f53\u3001\u30a2\u30df\u30ed\u30a4\u30c9\u6c88\u7740\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001GNE\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002\u6700\u8fd1\u3067\u306f\u3001\u4f4e\u30b7\u30a2\u30eb\u9178\u5316\u3092\u6307\u6a19\u3068\u3059\u308b\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\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>GNE\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u6839\u672c\u7684\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u8907\u6570\u306e\u6cbb\u7642\u6226\u7565\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u308b\u3002\u30b7\u30a2\u30eb\u9178\u88dc\u5145\u7642\u6cd5\u3068\u3057\u3066\u3001N-\u30a2\u30bb\u30c1\u30eb\u30ce\u30a4\u30e9\u30df\u30f3\u9178\uff08Neu5Ac\uff09\u3084N-\u30a2\u30bb\u30c1\u30eb\u30de\u30f3\u30ce\u30b5\u30df\u30f3\uff08ManNAc\uff09\u304c\u524d\u81e8\u5e8a\u8a66\u9a13\u304a\u3088\u3073\u521d\u671f\u81e8\u5e8a\u8a66\u9a13\u3067\u6709\u671b\u306a\u7d50\u679c\u3092\u793a\u3057\u3066\u3044\u308b\u304c\u3001\u62e1\u5f35\u653e\u51fa\u578bNeu5Ac\u306e\u7b2c3\u76f8\u8a66\u9a13\u3067\u306f\u6709\u610f\u306a\u52b9\u679c\u306f\u78ba\u8a8d\u3055\u308c\u306a\u304b\u3063\u305f\u3002ManNAc\u7642\u6cd5\u306f\u75be\u60a3\u9032\u884c\u306e\u6291\u5236\u306b\u4e00\u5b9a\u306e\u52b9\u679c\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u73fe\u5728\u3082\u81e8\u5e8a\u8a66\u9a13\u304c\u9032\u884c\u4e2d\u3067\u3042\u308b\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001GNE\u907a\u4f1d\u5b50\u306e\u5c0e\u5165\u3092\u76ee\u7684\u3068\u3057\u305f\u6cbb\u7642\u6cd5\u304c\u6a21\u7d22\u3055\u308c\u3066\u3044\u308b\u3002\u5bfe\u75c7\u7642\u6cd5\u3068\u3057\u3066\u306f\u3001\u7406\u5b66\u7642\u6cd5\u3001\u88c5\u5177\uff08\u30d5\u30c3\u30c8\u30c9\u30ed\u30c3\u30d7\u88dc\u52a9\u88c5\u5177\uff09\u304a\u3088\u3073\u79fb\u52d5\u652f\u63f4\u6a5f\u5668\u304c\u63a8\u5968\u3055\u308c\u308b\u3002\u547c\u5438\u6a5f\u80fd\u3084\u5fc3\u6a5f\u80fd\u306e\u7ba1\u7406\u3082\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u884c\u308f\u308c\u308b\u3002\u65e5\u672c\u3067\u306f2024\u5e74\u306b\u62e1\u5f35\u653e\u51fa\u578b\u30a2\u30bb\u30ce\u30a4\u30e9\u30df\u30f3\u9178\u88fd\u5264\u304cGNE\u30df\u30aa\u30d1\u30c1\u30fc\u6cbb\u7642\u85ac\u3068\u3057\u3066\u627f\u8a8d\u3055\u308c\u3001\u5927\u304d\u306a\u9032\u5c55\u3068\u306a\u3063\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>GNE\u30df\u30aa\u30d1\u30c1\u30fc\u306f\u7de9\u5f90\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u767a\u75c7\u5f8c10\u301c20\u5e74\u4ee5\u5185\u306b\u8eca\u6905\u5b50\u306e\u4f7f\u7528\u3092\u5fc5\u8981\u3068\u3059\u308b\u3088\u3046\u306b\u306a\u308b\u3002\u3057\u304b\u3057\u3001\u4e00\u822c\u7684\u306b\u306f\u5bff\u547d\u306b\u306f\u5f71\u97ff\u3092\u53ca\u307c\u3055\u306a\u3044\u3068\u3055\u308c\u308b\u3002\u5927\u817f\u56db\u982d\u7b4b\u304c\u6e29\u5b58\u3055\u308c\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u4ed6\u306e\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u6bd4\u8f03\u3057\u3066\u9577\u671f\u9593\u6b69\u884c\u304c\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002\u65e9\u671f\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u4ecb\u5165\u306b\u3088\u308a\u3001\u79fb\u52d5\u80fd\u529b\u306e\u4f4e\u4e0b\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002\u73fe\u5728\u306e\u6cbb\u7642\u6cd5\u306f\u5bfe\u75c7\u7642\u6cd5\u306b\u3068\u3069\u307e\u3063\u3066\u3044\u308b\u304c\u3001\u30b7\u30a2\u30eb\u9178\u88dc\u5145\u7642\u6cd5\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u75be\u60a3\u4fee\u98fe\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u308b\u3002\u907a\u4f1d\u5b50\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u9032\u6b69\u3068\u65e9\u671f\u8a3a\u65ad\u306e\u666e\u53ca\u304c\u3001\u4eca\u5f8c\u306e\u60a3\u8005\u306e\u4e88\u5f8c\u6539\u5584\u306b\u91cd\u8981\u3068\u306a\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\/10.1007\/978-3-031-44009-0_9\">Argov, Z., Mitrani-Rosenbaum, S. (2023). GNE Myopathy. In: Narayanaswami, P., Liewluck, T. (eds) Principles and Practice of the Muscular Dystrophies. Current Clinical Neurology. Humana, Cham. https:\/\/doi.org\/10.1007\/978-3-031-44009-0_9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/ncn3.12583\">Yoshioka, W., Noguchi, S., Mori\u2010Yoshimura, M., &amp; Nishino, I. (2022). Advances in understanding of the natural history, mechanism, extra\u2010muscular manifestations and treatment of GNE myopathy. <em>Neurology and Clinical Neuroscience<\/em>, <em>10<\/em>(6), 289\u2013297. https:\/\/doi.org\/10.1111\/ncn3.12583<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fneur.2022.1002310\">Mullen, J., Alrasheed, K., &amp; Mozaffar, T. (2022). GNE myopathy: History, etiology, and treatment trials. <em>Frontiers in Neurology<\/em>, <em>13<\/em>, 1002310. https:\/\/doi.org\/10.3389\/fneur.2022.1002310<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12038-023-00414-7\">Mashangva, F., Singh, S., Oswalia, J. <em>et al.<\/em> Understanding pathophysiology of GNE myopathy and current progress towards drug development. <em>J Biosci<\/em> <strong>49<\/strong>, 29 (2024). https:\/\/doi.org\/10.1007\/s12038-023-00414-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-981-97-9010-4_25\">Khadilkar, S.V., Yadav, R.S., Patel, B.A. (2024). Distal Myopathies. In: Neuromuscular Disorders. Springer, Singapore. https:\/\/doi.org\/10.1007\/978-981-97-9010-4_25<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.biochi.2022.03.014\">Sharma, S., Chanana, P., Bharadwaj, R., Bhattacharya, S., &amp; Arya, R. (2022). Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. <em>Biochimie<\/em>, <em>199<\/em>, 36\u201345. https:\/\/doi.org\/10.1016\/j.biochi.2022.03.014<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2021.12.007\">Torchia, E., Lucchini, M., Bortolani, S., Monforte, M., Garibaldi, M., Mirabella, M., Tartaglione, T., Ricci, E., &amp; Tasca, G. (2022). Upper body involvement in GNE myopathy assessed by muscle imaging. <em>Neuromuscular Disorders<\/em>, <em>32<\/em>(5), 410\u2013418. https:\/\/doi.org\/10.1016\/j.nmd.2021.12.007<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/22143602241296226\">Suzuki, N., Mori-Yoshimura, M., Nishino, I., &amp; Aoki, M. (2024). Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis. <em>Journal of Neuromuscular Diseases<\/em>, 22143602241296226. https:\/\/doi.org\/10.1177\/22143602241296226<\/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>GNE\u30df\u30aa\u30d1\u30c1\u30fc, \u91ce\u4e2d\u30df\u30aa\u30d1\u30c1\u30fc, \u9060\u4f4d\u578b\u30df\u30aa\u30d1\u30c1\u30fc, \u30a4\u30f3\u30af\u30eb\u30fc\u30b8\u30e7\u30f3\u30dc\u30c7\u30a3\u30df\u30aa\u30d1\u30c1\u30fc, \u907a\u4f1d\u6027\u7b4b\u75be\u60a3, GNE\u907a\u4f1d\u5b50, \u30b7\u30a2\u30eb\u9178\u4ee3\u8b1d, \u30d5\u30c3\u30c8\u30c9\u30ed\u30c3\u30d7, \u7b4b\u529b\u4f4e\u4e0b, \u907a\u4f1d\u5b50\u6cbb\u7642, \u30b7\u30a2\u30eb\u9178\u88dc\u5145\u7642\u6cd5, \u5e0c\u5c11\u75be\u60a3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":26,"template":"page_gd.php","class_list":["post-33780","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\/33780","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33780\/revisions"}],"predecessor-version":[{"id":127704,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33780\/revisions\/127704"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33780"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}