{"id":122037,"date":"2026-01-08T15:31:39","date_gmt":"2026-01-08T06:31:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122037"},"modified":"2026-03-03T15:31:13","modified_gmt":"2026-03-03T06:31:13","slug":"limb-girdle-muscular-dystrophy-type-2c-sgcg","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/limb-girdle-muscular-dystrophy-type-2c-sgcg\/","title":{"rendered":"\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08SGCG\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Limb-Girdle Muscular Dystrophy\uff1aLGMD\uff09\u306f\u3001\u80a9\u5e2f\u304a\u3088\u3073\u9aa8\u76e4\u5e2f\u306e\u8fd1\u4f4d\u7b4b\u3092\u4e2d\u5fc3\u306b\u9032\u884c\u6027\u7b4b\u529b\u4f4e\u4e0b\u3092\u5448\u3059\u308b\u907a\u4f1d\u6027\u7b4b\u75be\u60a3\u7fa4\u306e\u7dcf\u79f0\u3067\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082SGCG\u95a2\u9023\u578b\uff08LGMD2C\uff09\u306f\u3001\u7b4b\u7d30\u80de\u819c\u3092\u5b89\u5b9a\u5316\u3055\u305b\u308b\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u8907\u5408\u4f53\u306e\u69cb\u6210\u56e0\u5b50\u3067\u3042\u308b\u03b3\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u7b4b\u7dda\u7dad\u306f\u904b\u52d5\u6642\u306e\u6a5f\u68b0\u7684\u30b9\u30c8\u30ec\u30b9\u304b\u3089\u4fdd\u8b77\u3055\u308c\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u8907\u5408\u4f53\u304c\u6b20\u640d\u3059\u308b\u3068\u7b4b\u7d30\u80de\u819c\u304c\u8106\u5f31\u3068\u306a\u308a\u3001\u7b4b\u7dda\u7dad\u306e\u58ca\u6b7b\u3068\u518d\u751f\u304c\u53cd\u5fa9\u3057\u3001\u6700\u7d42\u7684\u306b\u7b4b\u840e\u7e2e\u3068\u7dda\u7dad\u5316\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u767a\u75c7\u306f\u591a\u304f\u304c\u5c0f\u5150\u671f\u3067\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306b\u985e\u4f3c\u3057\u305f\u91cd\u75c7\u7d4c\u904e\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

LGMD\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u7d0410\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3001SGCG\u95a2\u9023\u578b\u306f\u305d\u306e\u4e00\u90e8\u3092\u5360\u3081\u307e\u3059\u3002\u7279\u306b\u5317\u30a2\u30d5\u30ea\u30ab\u3001\u4e2d\u6771\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u4e00\u90e8\u5730\u57df\u3067\u5831\u544a\u983b\u5ea6\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fSGCG\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002SGCG\u907a\u4f1d\u5b50\u306f\u30d2\u30c813\u756a\u67d3\u8272\u4f53\uff0813q12\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u03b3\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u86cb\u767d\u306f\u7b4b\u7d30\u80de\u819c\u306e\u69cb\u9020\u5b89\u5b9a\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u6b20\u640d\u306b\u3088\u308a\u7b4b\u7dda\u7dad\u58ca\u6b7b\u304c\u9032\u884c\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n
    \n
  • \u5c0f\u5150\u671f\u306e\u8ee2\u3073\u3084\u3059\u3055<\/li>\n\n\n\n
  • \u968e\u6bb5\u6607\u964d\u56f0\u96e3<\/li>\n\n\n\n
  • \u8d70\u308c\u306a\u3044<\/li>\n\n\n\n
  • \u9032\u884c\u6027\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u547c\u5438\u7b4b\u969c\u5bb3\uff08\u9032\u884c\u671f\uff09<\/li>\n\n\n\n
  • \u5fc3\u7b4b\u969c\u5bb3\uff08\u307e\u308c\uff09<\/li>\n<\/ul>\n\n\n\n

    \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
      \n
    1. \u8840\u6e05CK\u9ad8\u5024<\/li>\n\n\n\n
    2. \u7b4b\u96fb\u56f3\u7570\u5e38<\/li>\n\n\n\n
    3. \u7b4b\u751f\u691c\u3067\u30b5\u30eb\u30b3\u30b0\u30ea\u30ab\u30f3\u6b20\u640d<\/li>\n\n\n\n
    4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08SGCG\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

      \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
        \n
      • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
      • \u547c\u5438\u7ba1\u7406<\/li>\n\n\n\n
      • \u5fc3\u6a5f\u80fd\u8a55\u4fa1<\/li>\n\n\n\n
      • \u30b9\u30c6\u30ed\u30a4\u30c9\uff08\u88dc\u52a9\u7684\uff09<\/li>\n\n\n\n
      • \u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u6bb5\u968e<\/li>\n<\/ul>\n\n\n\n

        \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

        \u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
        Noguchi S et al. Mutations in the sarcoglycan complex cause limb-girdle muscular dystrophy. Science. 1995.(Science)
        Limb-Girdle Muscular Dystrophy \u2014 GeneReviews, PubMed Central.(PMC)
        Limb-Girdle Muscular Dystrophy \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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