{"id":204,"date":"2024-03-27T06:25:34","date_gmt":"2024-03-27T06:25:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=disease&p=204"},"modified":"2025-04-16T09:44:48","modified_gmt":"2025-04-16T09:44:48","slug":"muscular-dystrophy","status":"publish","type":"disease","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/disease\/muscular-dystrophy\/","title":{"rendered":"\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u304a\u3088\u3073\u7b4b\u969c\u5bb3"},"content":{"rendered":"\n
Gene<\/td>\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b<\/td>Inheritance<\/td><\/tr>
ACAD9<\/td>\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u30d5\u30a1\u30df\u30ea\u30fc\u3001\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ACADVL<\/td>\u30a2\u30b7\u30eb-CoA \u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u3001\u975e\u5e38\u306b\u9577\u9396\u3001\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
ACTA1<\/td>\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AD\/AR<\/td><\/tr>
ADCK3<\/td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7\u3001\u9032\u884c\u6027\u5c0f\u8133\u5931\u8abf\u304a\u3088\u3073\u840e\u7e2e\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7<\/td>AR<\/td><\/tr>
ANO5<\/td>\u984e\u9aa8\u9aa8\u7570\u5f62\u6210\u3001LGMD2L\u304a\u3088\u3073\u9060\u4f4d\u578bMMD3\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
ATP2A1<\/td>\u30d6\u30ed\u30c7\u30a3\u7b4b\u75c7<\/td>AR<\/td><\/tr>
B3GALNT2<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
B4GAT1<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\uff08\u8133\u3068\u76ee\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027\uff09\u3001A\u578b\u300113<\/td>AR<\/td><\/tr>
BAG3<\/td>\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad\u75c7<\/td>AD<\/td><\/tr>
BICD2<\/td>\u62d8\u7e2e\u3092\u4f34\u3046\u5c0f\u5150\u671f\u767a\u75c7\u306e\u8fd1\u4f4d\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7<\/td>AD<\/td><\/tr>
BIN1<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4e2d\u5fc3\u6838<\/td>AD\/AR<\/td><\/tr>
CAPN3<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001\u597d\u9178\u7403\u6027\u7b4b\u708e<\/td>AD\/AR<\/td><\/tr>
CASQ1<\/td>CASQ1\u51dd\u96c6\u3092\u4f34\u3046\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7a7a\u80de\u6027<\/td>AD<\/td><\/tr>
CAV3<\/td>\u30af\u30ec\u30a2\u30c1\u30f3\u30db\u30b9\u30db\u30ad\u30ca\u30fc\u30bc\u3001\u8840\u6e05\u4e0a\u6607\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u3001QT\u5ef6\u9577\u75c7\u5019\u7fa4\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001IC\u578b\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u9060\u4f4d\u578b\u3001\u7acb\u5c71\u578b\u3001\u6ce2\u7d0b\u7b4b\u75be\u60a32<\/td>AD\/AR<\/td><\/tr>
CFL2<\/td>\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
CHKB<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u5148\u5929\u6027\u3001\u5de8\u5927\u5186\u9310\u5f62<\/td>AR<\/td><\/tr>
CNTN1<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u3001\u30b3\u30f3\u30d7\u30c8\u30f3\u30ce\u30fc\u30b9<\/td>AR<\/td><\/tr>
COL12A1<\/td>\u30d9\u30c4\u30ec\u30e0\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30a6\u30eb\u30ea\u30c3\u30d2\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
COL4A1<\/td>\u7d71\u5408\u8133\u75c7\u3001\u8133\u306e\u95a2\u4e0e\u3092\u4f34\u3046\u524d\u773c\u90e8\u767a\u80b2\u4e0d\u5168\u3001\u7db2\u819c\u52d5\u8108\u306d\u3058\u308c\u3001\u5b54\u8133\u75c7\u3001\u814e\u75c7\u3001\u52d5\u8108\u7624\u3001\u7b4b\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u907a\u4f1d\u6027\u306e\u8840\u7ba1\u969c\u5bb3\u3001\u8133\u5c0f\u8840\u7ba1\u75be\u60a3<\/td>AD<\/td><\/tr>
COL4A2<\/td>\u51fa\u8840\u3001\u8133\u5185\u51fa\u8840<\/td>AD<\/td><\/tr>
COL6A1<\/td>\u30d9\u30c4\u30ec\u30e0\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30a6\u30eb\u30ea\u30c3\u30d2\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
COL6A2<\/td>\u3066\u3093\u304b\u3093\u3001\u9032\u884c\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3001\u30d9\u30b9\u30ec\u30e0\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u786c\u5316\u75c7\u3001\u5148\u5929\u6027\u3001\u30a6\u30eb\u30ea\u30c3\u30d2\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
COL6A3<\/td>\u30d9\u30b9\u30ec\u30e0\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30a6\u30eb\u30ea\u30c3\u30d2\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
COQ2<\/td>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7<\/td>AR<\/td><\/tr>
CRYAB<\/td>\u767d\u5185\u969c\u3001\u7b4b\u539f\u7dda\u7dad\u6027\u7b4b\u75c7\u304a\u3088\u3073\u5fc3\u7b4b\u75c7\u3001\u5148\u5929\u6027\u767d\u5185\u969c\u304a\u3088\u3073\u5fc3\u7b4b\u75c7\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad\u6027\u3001\u767d\u5185\u969c16\u578b\u3001\u8907\u6570\u306e\u30bf\u30a4\u30d7\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad\u6027\u3001\u81f4\u6b7b\u6027\u4e73\u5150\u6027\u9ad8\u7dca\u5f35\u75c7\u3001\u03b1-B\u30af\u30ea\u30b9\u30bf\u30ea\u30f3\u95a2\u9023<\/td>AD<\/td><\/tr>
DAG1<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
DES<\/td>\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad\u6027\u3001\u80a9\u7532\u8153\u9aa8\u75c7\u5019\u7fa4\u3001\u795e\u7d4c\u56e0\u6027\u3001\u30b1\u30fc\u30b6\u30fc\u578b<\/td>AD\/AR<\/td><\/tr>
DGUOK<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u6b20\u640d\u75c7\u5019\u7fa4\u3001\u9580\u8108\u5727\u4ea2\u9032\u75c7\u3001\u975e\u809d\u786c\u5909\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u6b20\u5931\u3092\u4f34\u3046\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d 4<\/td>AR<\/td><\/tr>
DMD<\/td>\u30d9\u30c3\u30ab\u30fc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09<\/td>XL<\/td><\/tr>
DNAJB6<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AD<\/td><\/tr>
DPM3<\/td>\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
DYSF<\/td>\u4e09\u597d\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u9060\u4f4d\u3001\u524d\u811b\u9aa8\u767a\u75c7\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
EMD<\/td>\u30a8\u30e1\u30ea\u30fc\u30fb\u30c9\u30ec\u30d5\u30e5\u30b9\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>XL<\/td><\/tr>
FDX1L<\/td>\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
FHL1<\/td>\u59ff\u52e2\u6027\u7b4b\u840e\u7e2e\u75c7\u3092\u4f34\u3046\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30a8\u30e1\u30ea\u30fc\u30fb\u30c9\u30ec\u30d5\u30e5\u30b9\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u5168\u8eab\u30df\u30aa\u30d1\u30c1\u30fc\u306e\u8efd\u6e1b<\/td>XL<\/td><\/tr>
FKRP<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
FKTN<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u75c7\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u75c7\uff08\u56db\u80a2\u5e2f\uff09<\/td>AR<\/td><\/tr>
FLAD1<\/td>FLAD1\u6b20\u640d\u306b\u3088\u308b\u8102\u8cea\u84c4\u7a4d\u6027\u30df\u30aa\u30d1\u30c1\u30fc\uff08LSMFLAD\uff09<\/td>AR<\/td><\/tr>
FLNC<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5fc3\u7b4b\u75c7<\/td>AD<\/td><\/tr>
GAA<\/td>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75be\u60a3<\/td>AR<\/td><\/tr>
GBE1<\/td>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75be\u60a3<\/td>AR<\/td><\/tr>
GMPPB<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\uff08\u8133\u3068\u76ee\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027\uff09\u3001\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
GOLGA2<\/td>\u5c0f\u982d\u75c7\u3001\u767a\u4f5c\u3001\u767a\u9054\u9045\u5ef6<\/td>AR<\/td><\/tr>
GYG1<\/td>\u7cd6\u539f\u75c5\u3001\u30dd\u30ea\u30b0\u30eb\u30b3\u30b5\u30f3\u5c0f\u4f53\u30df\u30aa\u30d1\u30c1\u30fc2<\/td>AR<\/td><\/tr>
HNRNPDL<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001\u30bf\u30a4\u30d7 1G<\/td>AD<\/td><\/tr>
INPP5K<\/td>\u767d\u5185\u969c\u304a\u3088\u3073\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc (MDCCAID)<\/td>AR<\/td><\/tr>
ISCU<\/td>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u4f34\u3046\u30df\u30aa\u30d1\u30b7\u30fc<\/td>AR<\/td><\/tr>
ISPD<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
ITGA7<\/td>\u30a4\u30f3\u30c6\u30b0\u30ea\u30f3\u03b1-7\u6b20\u640d\u75c7\u306b\u3088\u308b\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
KBTBD13<\/td>\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AD<\/td><\/tr>
KLHL40<\/td>\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
KLHL41<\/td>\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
LAMA2<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u5148\u5929\u6027\u30e1\u30ed\u30b7\u30f3\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
LAMP2<\/td>\u30c0\u30ce\u30f3\u75c5<\/td>XL<\/td><\/tr>
LARGE<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
LDB3<\/td>\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad\u75c7<\/td>AD<\/td><\/tr>
LIMS2<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AR<\/td><\/tr>
LMNA<\/td>\u30cf\u30fc\u30c8\u30fb\u30cf\u30f3\u30c9\u75c7\u5019\u7fa4\u3001\u30b9\u30ed\u30d9\u30cb\u30a2\u8a9e\u3001\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u5148\u5929\u6027\u3001LMNA\u95a2\u9023\u3001\u30ea\u30dd\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30c0\u30cb\u30ac\u30f3\uff09\u3001\u30a8\u30e1\u30ea\u30fc\u30fb\u30c9\u30ec\u30d5\u30e5\u30b9\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u30de\u30eb\u30fc\u30d5\u75c7\u5019\u7fa4\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u4e0b\u984e\u9aa8\u53e3\u9aa8\u5f62\u6210\u4e0d\u5168A\u578b\u3001\u65e9\u8001\u75c7\u30cf\u30c3\u30c1\u30f3\u30bd\u30f3-\u30ae\u30eb\u30d5\u30a9\u30fc\u30c9\u578b<\/td>AD\/AR<\/td><\/tr>
LMOD3<\/td>\u91cd\u5ea6\u306e\u5148\u5929\u6027\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5178\u578b\u7684\u306a\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
MAP3K20<\/td>\u6838\u4e2d\u5fc3\u6027\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
MEGF10<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u65e9\u671f\u767a\u75c7\u3001\u53cd\u5c04\u4e0d\u5168\u3001\u547c\u5438\u56f0\u96e3\u3001\u56a5\u4e0b\u969c\u5bb3<\/td>AR<\/td><\/tr>
MICU1<\/td>\u9310\u4f53\u5916\u8def\u5fb4\u5019\u3092\u4f34\u3046\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
MME<\/td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7 43\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u3001\u8ef8\u7d22\u3001\u30bf\u30a4\u30d7 2T<\/td>AD\/AR<\/td><\/tr>
MSTO1<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3001\u904b\u52d5\u5931\u8abf<\/td>AR<\/td><\/tr>
MT-ATP6<\/td>\u795e\u7d4c\u969c\u5bb3\u3001\u904b\u52d5\u5931\u8abf\u3001\u304a\u3088\u3073\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u904b\u52d5\u5931\u8abf\u304a\u3088\u3073\u591a\u767a\u6027\u795e\u7d4c\u969c\u5bb3\u3001\u6210\u4eba\u767a\u75c7\u3001\u5fc3\u7b4b\u75c7\u3001\u4e73\u5150\u80a5\u5927\u75c7\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u7dda\u6761\u4f53\u9ed2\u8cea\u5909\u6027\u75c7\u3001\u4e73\u5150\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-ATP8<\/td>\u5fc3\u7b4b\u75c7\u3001\u5fc3\u5c16\u90e8\u80a5\u5927\u578b\u3001\u795e\u7d4c\u969c\u5bb3\u3001\u5fc3\u7b4b\u75c7\u3001\u4e73\u5150\u80a5\u5927\u578b<\/td>Mitochondrial<\/td><\/tr>
MT-CO1<\/td>\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u75c7\u3001\u518d\u767a\u6027\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u9244\u82bd\u7403\u6027\u8ca7\u8840\u3001\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-CO2<\/td>\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-CO3<\/td>\u30c1\u30c8\u30af\u30ed\u30e0c\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-CYB<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-ND1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u30b8\u30b9\u30c8\u30cb\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-ND2<\/td>\u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND3<\/td>\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND4<\/td>\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND4L<\/td>\u30ec\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND5<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-ND6<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u30aa\u30f3\u30b3\u30b5\u30a4\u30c8\u30fc\u30de\u3001\u30ec\u30fc\u30d9\u30eb\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u30ec\u30fc\u30d9\u30eb\u8996\u795e\u7d4c\u840e\u7e2e\u304a\u3088\u3073\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-RNR1<\/td>\u96e3\u8074\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-RNR2<\/td>\u30af\u30ed\u30e9\u30e0\u30d5\u30a7\u30cb\u30b3\u30fc\u30eb\u306e\u6bd2\u6027\/\u8010\u6027<\/td>Mitochondrial<\/td><\/tr>
MT-TA<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TC<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9<\/td>Mitochondrial<\/td><\/tr>
MT-TD<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TE<\/td>\u7cd6\u5c3f\u75c5\u6027\u96e3\u8074\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4e73\u5150\u3001\u4e00\u904e\u6027\u3001\u7cd6\u5c3f\u75c5\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30df\u30aa\u30d1\u30c1\u30fc<\/td>Mitochondrial<\/td><\/tr>
MT-TF<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u6027\u3066\u3093\u304b\u3093\u3001\u814e\u75c7\u3001\u5c3f\u7d30\u7ba1\u9593\u8cea\u6027\u3001\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-TG<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TH<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TI<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TK<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30ea\u30fc\u75c7\u5019\u7fa4<\/td>Mitochondrial<\/td><\/tr>
MT-TL1<\/td>\u30c1\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u4e0d\u898f\u5247\u306a\u8d64\u8272\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3001\u7cd6\u5c3f\u75c5\u96e3\u8074\u75c7\u5019\u7fa4\u3001\u5468\u671f\u6027\u5614\u5410\u75c7\u5019\u7fa4\u3001SIDS\u3001\u4ee5\u4e0b\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027<\/td>Mitochondrial<\/td><\/tr>
MT-TL2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3\u3001\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7b4b\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-TM<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TN<\/td>\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TP<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TQ<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TR<\/td>\u8133\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-TS1<\/td>\u4e0d\u898f\u5247\u306a\u8d64\u3044\u7dda\u7dad\u3092\u4f34\u3046\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u6027\u3066\u3093\u304b\u3093\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u8133\u75c7\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9<\/td>Mitochondrial<\/td><\/tr>
MT-TS2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MT-TT<\/td><\/td>Mitochondrial<\/td><\/tr>
MT-TV<\/td>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304a\u3088\u3073\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u4f34\u3046\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8133\u7b4b\u75c7<\/td>Mitochondrial<\/td><\/tr>
MT-TW<\/td>\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2<\/td>Mitochondrial<\/td><\/tr>
MT-TY<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u591a\u7cfb\u7d71\u969c\u5bb3<\/td>Mitochondrial<\/td><\/tr>
MTM1<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4e2d\u5fc3\u6838<\/td>XL<\/td><\/tr>
MYH7<\/td>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30aa\u30b7\u30f3\u84c4\u7a4d\u75c7\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u9060\u4f4d\u578b\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09<\/td>AD<\/td><\/tr>
MYO18B<\/td>\u30af\u30ea\u30c3\u30da\u30eb\u30fb\u30d5\u30a1\u30a4\u30eb\u75c7\u5019\u7fa4 4\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u304a\u3088\u3073\u9854\u9762\u7570\u5f62\u75c7\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
MYOT<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad\u6027\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u30011A\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u56de\u8ee2\u6955\u5186\u4f53<\/td>AD<\/td><\/tr>
NEB<\/td>\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
PABPN1<\/td>\u773c\u54bd\u982d\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
PGK1<\/td>\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u30ad\u30ca\u30fc\u30bc 1 \u6b20\u640d\u75c7<\/td>XL<\/td><\/tr>
PHKA1<\/td>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75be\u60a3<\/td>XL<\/td><\/tr>
PHKB<\/td>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75be\u60a3<\/td>AR<\/td><\/tr>
PLEC<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001\u8868\u76ae\u6c34\u75b1\u75c7<\/td>AD\/AR<\/td><\/tr>
PNPLA2<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3092\u4f34\u3046\u4e2d\u6027\u8102\u8cea\u84c4\u7a4d\u75c7<\/td>AR<\/td><\/tr>
POGLUT1<\/td>\u30c0\u30a6\u30ea\u30f3\u30b0\u30fb\u30c7\u30b4\u30b9\u75c5 4\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u30012Z \u578b<\/td>AD\/AR<\/td><\/tr>
POLG<\/td>POLG\u95a2\u9023\u904b\u52d5\u5931\u8abf\u795e\u7d4c\u969c\u5bb3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u611f\u899a\u6027\u904b\u52d5\u5931\u8abf\u3001\u69cb\u97f3\u969c\u5bb3\u3001\u304a\u3088\u3073\u773c\u9ebb\u75fa\u3001\u30a2\u30eb\u30d1\u30fc\u30b9\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u6b20\u5931\u3092\u4f34\u3046\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u67af\u6e07\u75c7\u5019\u7fa4<\/td>AD\/AR<\/td><\/tr>
POLG2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u6b20\u5931\u3092\u4f34\u3046\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa<\/td>AD<\/td><\/tr>
POMGNT1<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
POMGNT2<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\uff08\u8133\u3068\u76ee\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027\uff09\u3001A \u578b\u30018<\/td>AR<\/td><\/tr>
POMK<\/td>\u8133\u3068\u76ee\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc \u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u3001A \u578b\u300112\u3001\u8133\u3068\u76ee\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc \u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u3001C \u578b\u300112\u3001\u7b4b\u773c\u8133\u75be\u60a3\u3001\u30a6\u30a9\u30fc\u30ab\u30fc \u30ef\u30fc\u30eb\u30d6\u30eb\u30af\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
POMT1<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
POMT2<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30fb\u30b8\u30b9\u30c8\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
PYGM<\/td>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75be\u60a3<\/td>AR<\/td><\/tr>
PYROXD1<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u7b4b\u539f\u7dda\u7dad8<\/td>AR<\/td><\/tr>
RBCK1<\/td>\u30dd\u30ea\u30b0\u30eb\u30b3\u30b5\u30f3\u5c0f\u4f53\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
RRM2B<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u6b20\u5931\u3092\u4f34\u3046\u9032\u884c\u6027\u5916\u773c\u7b4b\u9ebb\u75fa\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4<\/td>AD\/AR<\/td><\/tr>
RYR1<\/td>\u30bb\u30f3\u30c8\u30e9\u30eb\u30b3\u30a2\u75be\u60a3\u3001\u60aa\u6027\u9ad8\u71b1\u75c7\u3001\u5916\u773c\u7b4b\u9ebb\u75fa\u3092\u4f34\u3046\u30df\u30cb\u30b3\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4e2d\u5fc3\u6838\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30cb\u30b3\u30a2\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30de\u30eb\u30c1\u30b3\u30a2\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AD\/AR<\/td><\/tr>
SCN4A<\/td>\u9ad8\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u6027\u5468\u671f\u6027\u9ebb\u75fa\u3001\u30df\u30aa\u30c8\u30cb\u30a2\u3001\u30ab\u30ea\u30a6\u30e0\u60aa\u5316\u3001\u5148\u5929\u6027\u30d1\u30e9\u30df\u30aa\u30c8\u30cb\u30a2\u3001\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\u3001\u5148\u5929\u6027\u3001\u6b63\u5e38\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u6027\u30ab\u30ea\u30a6\u30e0\u611f\u53d7\u6027\u5468\u671f\u6027\u9ebb\u75fa<\/td>AD\/AR<\/td><\/tr>
SELENON<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u810a\u690e\u786c\u5316\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u3001\u7dda\u7dad\u4e0d\u5747\u8861\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
SEPT9<\/td>\u7b4b\u840e\u7e2e\u75c7\u3001\u907a\u4f1d\u6027\u795e\u7d4c\u75db<\/td>AD<\/td><\/tr>
SGCA<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AR<\/td><\/tr>
SGCB<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AR<\/td><\/tr>
SGCD<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09<\/td>AR<\/td><\/tr>
SGCG<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AR<\/td><\/tr>
SIL1<\/td>\u30de\u30ea\u30cd\u30b9\u30b3\u30fb\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
SLC22A5<\/td>\u30ab\u30eb\u30cb\u30c1\u30f3\u6b20\u4e4f\u75c7\u3001\u5168\u8eab\u6027\u539f\u767a\u6027<\/td>AR<\/td><\/tr>
SLC25A20<\/td>\u30ab\u30eb\u30cb\u30c1\u30f3-\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ed\u30ab\u30fc\u30bc\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
SMCHD1<\/td>\u9854\u9762\u80a9\u7532\u4e0a\u8155\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u9854\u9762\u80a9\u7532\u4e0a\u8155\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30012 \u578b<\/td>AD<\/td><\/tr>
SMN1<\/td>\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7<\/td>AR<\/td><\/tr>
SMN2<\/td>\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7<\/td>AD<\/td><\/tr>
SPEG<\/td>\u6838\u4e2d\u5fc3\u6027\u30df\u30aa\u30d1\u30c1\u30fc 5<\/td>AR<\/td><\/tr>
SPTBN4<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u3001\u795e\u7d4c\u969c\u5bb3\u3068\u96e3\u8074\u3092\u4f34\u3046<\/td>AR<\/td><\/tr>
STAC3<\/td>\u30cd\u30a4\u30c6\u30a3\u30d6\u30a2\u30e1\u30ea\u30ab\u30f3\u30df\u30aa\u30d1\u30b7\u30fc<\/td><\/td><\/tr>
SUCLA2<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
SUCLG1<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
SYNE1<\/td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c7\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u60278\u578b<\/td>AD\/AR<\/td><\/tr>
TANGO2<\/td>\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u3001\u4e0d\u6574\u8108\u3001\u795e\u7d4c\u5909\u6027\u3092\u4f34\u3046\u4ee3\u8b1d\u6027\u8133\u7b4b\u75c7\u6027\u5371\u6a5f\uff08MECRCN\uff09<\/td>AR<\/td><\/tr>
TCAP<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u3001\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09<\/td>AD\/AR<\/td><\/tr>
TIA1<\/td>\u30a6\u30a7\u30e9\u30f3\u30c0\u30fc\u9060\u4f4d\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AD<\/td><\/tr>
TMEM126B<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
TMEM43<\/td>\u4e0d\u6574\u8108\u539f\u6027\u53f3\u5ba4\u7570\u5f62\u6210\u3001\u30a8\u30e1\u30ea\u30fc\u30fb\u30c9\u30ec\u30d5\u30e5\u30b9\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD<\/td><\/tr>
TNNT1<\/td>\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc<\/td>AR<\/td><\/tr>
TNPO3<\/td>\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AD<\/td><\/tr>
TOR1AIP1<\/td>\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u9060\u4f4d\u62d8\u7e2e\u3001\u810a\u690e\u306e\u786c\u76f4\u3092\u4f34\u3046\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AD\/AR<\/td><\/tr>
TPM2<\/td>CAP\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u9060\u4f4d<\/td>AD<\/td><\/tr>
TPM3<\/td>CAP\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30cd\u30de\u30ea\u30f3\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u3001\u7dda\u7dad\u4e0d\u5747\u8861\u3092\u4f34\u3046<\/td>AD\/AR<\/td><\/tr>
TRAPPC11<\/td>\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/td>AR<\/td><\/tr>
TRIM32<\/td>\u30d0\u30eb\u30c7\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f<\/td>AR<\/td><\/tr>
TSFM<\/td>\u8907\u5408\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u6b20\u640d\u75c7<\/td>AR<\/td><\/tr>
TTN<\/td>\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\uff08DCM\uff09\u3001\u811b\u9aa8\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u65e9\u671f\u547c\u5438\u4e0d\u5168\u3092\u4f34\u3046\u907a\u4f1d\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u81f4\u6b7b\u6027\u5fc3\u7b4b\u75c7\u3092\u4f34\u3046\u65e9\u671f\u767a\u75c7\u578b\u30df\u30aa\u30d1\u30c1\u30fc\uff08\u30b5\u30ea\u7b4b\u75c7\uff09\u3001\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u56db\u80a2\u5e2f\u578b\u30012J\u578b<\/td>AD\/AR<\/td><\/tr>
TYMP<\/td>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2 DNA \u67af\u6e07\u75c7\u5019\u7fa4<\/td>AR<\/td><\/tr>
VMA21<\/td>\u30df\u30aa\u30d1\u30c1\u30fc\u3001X \u9023\u9396\u3001\u904e\u5270\u306a\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u3092\u4f34\u3046<\/td>XL<\/td><\/tr>
VPS13A<\/td>\u821e\u8e0f\u76ae\u8868\u76ae\u75c7<\/td>AR<\/td><\/tr><\/tbody><\/table><\/figure>\n

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