{"id":111702,"date":"2025-06-16T15:32:17","date_gmt":"2025-06-16T06:32:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/"},"modified":"2025-08-22T12:05:29","modified_gmt":"2025-08-22T03:05:29","slug":"lgmdr1-calpainopathy-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans","title":{"rendered":"\u56db\u80a2\u5e26\u578b\u808c\u8089\u840e\u7f29\u75c71\u578b\uff08LGMDR1\uff09\uff08\u5361\u5229\u5e15\u8bfa\u75c5\uff0c\u65e7\u540d\uff1aLGMD2A\uff09\u3010CAPN3\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E5%90%8D%EF%BC%9ACAPN3%EF%BC%88%E5%8D%A1%E5%88%A9%E5%B8%95%E5%9B%A03%EF%BC%89\" >\u57fa\u56e0\u540d\uff1aCAPN3\uff08\u5361\u5229\u5e15\u56e03\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E5%B0%91%E8%A7%81%E7%97%87%E7%8A%B6%EF%BC%9A\" >\u5c11\u89c1\u75c7\u72b6\uff1a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\" >\u8bca\u65ad\u65b9\u6cd5<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E7%9B%AE%E5%89%8D%E7%9A%84%E6%B2%BB%E7%96%97%E6%96%B9%E6%A1%88%EF%BC%9A\" >\u76ee\u524d\u7684\u6cbb\u7597\u65b9\u6848\uff1a<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E6%9C%AF%E8%AF%AD%E8%A7%A3%E9%87%8A\" >\u672f\u8bed\u89e3\u91ca<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\/?lang=zh-hans\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>CAPN3<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CAPN3-hgtIdeo_genome_asia_2ff8b_f90c50-1024x26.png\" alt=\"\" class=\"wp-image-101406\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%90%8D%EF%BC%9ACAPN3%EF%BC%88%E5%8D%A1%E5%88%A9%E5%B8%95%E5%9B%A03%EF%BC%89\"><\/span>\u57fa\u56e0\u540d\uff1aCAPN3\uff08\u5361\u5229\u5e15\u56e03\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9057\u4f20\u65b9\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08\u7236\u6bcd\u5404\u4f20\u9012\u4e00\u4e2a\u5f02\u5e38\u57fa\u56e0\uff09<\/p>\n\n\n\n<p>\u57fa\u56e0\u7684\u4f5c\u7528\uff1aCAPN3\u57fa\u56e0\u8d1f\u8d23\u5236\u9020\u4e00\u79cd\u540d\u4e3a\u201c\u5361\u5229\u5e15\u56e03\u201d\u7684\u86cb\u767d\u8d28\uff0c\u8fd9\u79cd\u86cb\u767d\u8d28\u5728\u808c\u8089\u4fee\u590d\u4e2d\u8d77\u7740\u91cd\u8981\u4f5c\u7528\u3002\u5f53CAPN3\u57fa\u56e0\u53d1\u751f\u7a81\u53d8\u65f6\uff0c\u808c\u8089\u4fee\u590d\u65e0\u6cd5\u987a\u5229\u8fdb\u884c\uff0c\u5bfc\u81f4\u808c\u8089\u9010\u6e10\u840e\u7f29\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%91%E8%A7%81%E7%97%87%E7%8A%B6%EF%BC%9A\"><\/span>\u5c11\u89c1\u75c7\u72b6\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9762\u90e8\u808c\u529b\u4e0b\u964d<\/p>\n\n\n\n<p>\u9888\u90e8\u524d\u5c48\uff08\u9888\u90e8\u524d\u503e\u75c7\uff09<\/p>\n\n\n\n<p>\u4e0e\u4ee3\u8c22\u6027\u808c\u8089\u75be\u75c5\u76f8\u4f3c\u7684\u75c7\u72b6<\/p>\n\n\n\n<p>\u4e0e\u513f\u7ae5\u671f\u53d1\u75c5\u7684\u55dc\u9178\u6027\u808c\u708e\u5408\u5e76\u7684\u62a5\u9053<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span>\u8bca\u65ad\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u68c0\u67e5\uff1a\u808c\u9178\u6fc0\u9176\uff08CK\uff09\u503c\u5347\u9ad8\uff08\u6bd4\u6b63\u5e38\u503c\u9ad8\u6570\u500d\u81f3\u51e0\u5341\u500d\uff09<\/p>\n\n\n\n<p>\u808c\u7535\u56fe\uff08EMG\uff09\uff1a\u663e\u793a\u808c\u8089\u7684\u5f02\u5e38\uff08\u808c\u6e90\u6027\u6539\u53d8\uff09<\/p>\n\n\n\n<p>\u5f71\u50cf\u5b66\u68c0\u67e5\uff08\u808c\u8089MRI\uff09\uff1a\u663e\u793a\u808c\u8089\u8102\u80aa\u5316\u3001\u840e\u7f29<\/p>\n\n\n\n<p>\u808c\u8089\u6d3b\u68c0\uff08\u808c\u8089\u7ec4\u7ec7\u68c0\u67e5\uff09\uff1a\u663e\u793a\u808c\u7ea4\u7ef4\u5927\u5c0f\u4e0d\u4e00\u3001\u574f\u6b7b\u548c\u518d\u751f\u3001\u7ea4\u7ef4\u5316<\/p>\n\n\n\n<p>\u86cb\u767d\u8d28\u5206\u6790\uff08\u514d\u75ab\u67d3\u8272\u3001\u897f\u65b9\u5370\u8ff9\uff09\uff1a\u786e\u8ba4\u5361\u5229\u5e15\u56e03\u7f3a\u5931\u6216\u663e\u8457\u51cf\u5c11<\/p>\n\n\n\n<p>\u57fa\u56e0\u68c0\u6d4b\uff1a\u901a\u8fc7NGS\uff08\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\uff09\u8fdb\u884c\u591a\u57fa\u56e0\u5206\u6790<\/p>\n\n\n\n<p>\u65b0\u8bca\u65ad\u6280\u672f\uff1a\u6709\u7814\u7a76\u8868\u660e\u53ef\u4ee5\u901a\u8fc7\u76ae\u80a4\u6210\u7ea4\u7ef4\u7ec6\u80de\u6216\u5c3f\u6db2\u4e2d\u7684CAPN3\u8868\u8fbe\u6765\u8fdb\u884c\u68c0\u6d4b\uff0c\u672a\u6765\u53ef\u80fd\u4e0d\u518d\u9700\u8981\u808c\u8089\u6d3b\u68c0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7597\u4e0e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%AE%E5%89%8D%E7%9A%84%E6%B2%BB%E7%96%97%E6%96%B9%E6%A1%88%EF%BC%9A\"><\/span>\u76ee\u524d\u7684\u6cbb\u7597\u65b9\u6848\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7269\u7406\u6cbb\u7597\u4e0e\u8fd0\u52a8\u7597\u6cd5\uff1a\u901a\u8fc7\u62c9\u4f38\u548c\u9002\u5ea6\u7684\u808c\u8089\u953b\u70bc\u7ef4\u6301\u808c\u529b\uff0c\u9884\u9632\u5173\u8282\u631b\u7f29<\/p>\n\n\n\n<p>\u77eb\u5f62\u5668\u5177\u548c\u8f85\u52a9\u5de5\u5177\uff1a\u5e2e\u52a9\u7ef4\u6301\u59ff\u52bf\uff0c\u786e\u4fdd\u6b65\u6001\u7a33\u5b9a<\/p>\n\n\n\n<p>\u547c\u5438\u4e0e\u5fc3\u810f\u529f\u80fd\u652f\u6301\uff1a\u5982\u679c\u547c\u5438\u529f\u80fd\u53d7\u635f\uff0c\u53ef\u80fd\u9700\u8981\u4f7f\u7528\u547c\u5438\u8f85\u52a9\u8bbe\u5907<\/p>\n\n\n\n<p>\u836f\u7269\u7597\u6cd5\uff08\u7814\u7a76\u9636\u6bb5\uff09\uff1a\u5982\u7cd6\u76ae\u8d28\u6fc0\u7d20\uff08\u7c7b\u56fa\u9187\uff09\u548c\u808c\u8089\u751f\u957f\u6291\u5236\u5242\uff08\u4f8b\u5982MYO-029\uff09\u7b49\uff0c\u867d\u7136\u6709\u7814\u7a76\u652f\u6301\uff0c\u4f46\u6548\u679c\u6709\u9650<\/p>\n\n\n\n<p>\u57fa\u56e0\u6cbb\u7597\uff08\u5f00\u53d1\u4e2d\uff09\uff1a\u4f7f\u7528AAV\uff08\u817a\u75c5\u6bd2\u9644\u5e26\u75c5\u6bd2\uff09\u5c06CAPN3\u57fa\u56e0\u5bfc\u5165\uff0c\u6216\u8005\u4f7f\u7528\u6297\u4e49\u6838\u9178\uff08ASO\uff09\u7597\u6cd5\uff0c\u57fa\u56e0\u7f16\u8f91\u6280\u672f\u5982CRISPR-Cas9\u548c\u5e72\u7ec6\u80de\u6cbb\u7597\u4e5f\u5728\u7814\u7a76\u4e2d<\/p>\n\n\n\n<p>\u9884\u540e\u4e0e\u8fdb\u5c55<\/p>\n\n\n\n<p>\u8fdb\u5c55\u5dee\u5f02\uff1a\u6839\u636e\u53d1\u75c5\u5e74\u9f84\u3001\u57fa\u56e0\u578b\u548c\u6027\u522b\u7684\u4e0d\u540c\uff0c\u75c5\u7a0b\u8fdb\u5c55\u6709\u6240\u4e0d\u540c<\/p>\n\n\n\n<p>\u5e73\u5747\u75c5\u7a0b\uff1a<\/p>\n\n\n\n<p>\u6b65\u6001\u4e27\u5931\uff1a\u5927\u7ea6\u5728\u53d1\u75c5\u540e\u768415\u523025\u5e74\u540e\uff0c\u901a\u5e38\u572830\u5c81\u524d\u4e27\u5931\u884c\u8d70\u80fd\u529b<\/p>\n\n\n\n<p>\u547c\u5438\u5e76\u53d1\u75c7\uff1a\u8f83\u5c11\u89c1\uff0c\u7ea611%\u7684\u6b27\u6d32\u62a5\u544a\u663e\u793a\u91cd\u75c7\u5316<\/p>\n\n\n\n<p>\u5fc3\u810f\u529f\u80fd\uff1a\u5c11\u6570\u75c5\u4f8b\u4f1a\u51fa\u73b0\u8f7b\u5ea6\u5fc3\u808c\u75c5\uff0c\u4f46\u901a\u5e38\u4e0d\u4f1a\u5f71\u54cd\u751f\u6d3b<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%AF%E8%AF%AD%E8%A7%A3%E9%87%8A\"><\/span>\u672f\u8bed\u89e3\u91ca<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u808c\u8089\u840e\u7f29\u75c7\uff08Muscular Dystrophy\uff09\uff1a\u808c\u8089\u9010\u6e10\u8870\u5f31\u7684\u8fdb\u884c\u6027\u75be\u75c5<\/p>\n\n\n\n<p>\u56db\u80a2\u5e26\u578b\uff08Limb-Girdle\uff09\uff1a\u6307\u80a9\u90e8\u548c\u8170\u90e8\u5468\u56f4\u7684\u808c\u8089\u9996\u5148\u53d7\u5230\u5f71\u54cd<\/p>\n\n\n\n<p>\u57fa\u56e0\uff08Gene\uff09\uff1a\u662f\u6784\u5efa\u8eab\u4f53\u7684\u201c\u84dd\u56fe\u201d\uff0c\u901a\u8fc7\u9057\u4f20\u4f20\u7ed9\u540e\u4ee3<\/p>\n\n\n\n<p>\u5361\u5229\u5e15\u56e03\uff08Calpain-3\uff09\uff1a\u5e2e\u52a9\u808c\u8089\u4fee\u590d\u548c\u4fdd\u62a4\u7684\u86cb\u767d\u8d28<\/p>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08Autosomal Recessive Inheritance\uff09\uff1a\u4ece\u7236\u6bcd\u53cc\u65b9\u5404\u7ee7\u627f\u4e00\u4e2a\u5f02\u5e38\u57fa\u56e0\u624d\u4f1a\u53d1\u75c5<\/p>\n\n\n\n<p>\u53d8\u5f02\uff08Mutation\uff09\uff1a\u57fa\u56e0\u4e2d\u7684\u4fe1\u606f\u88ab\u6539\u53d8\uff0c\u5bfc\u81f4\u5176\u529f\u80fd\u5931\u5e38<\/p>\n\n\n\n<p>CK\uff08\u808c\u9178\u6fc0\u9176\uff09\uff1a\u808c\u8089\u635f\u4f24\u65f6\u91ca\u653e\u5230\u8840\u6db2\u4e2d\u7684\u7269\u8d28\uff0c\u901a\u8fc7\u8840\u6db2\u68c0\u67e5\u53ef\u68c0\u6d4b<\/p>\n\n\n\n<p>\u808c\u7535\u56fe\uff08EMG\uff09\uff1a\u68c0\u67e5\u808c\u8089\u548c\u795e\u7ecf\u529f\u80fd\u7684\u68c0\u6d4b\u65b9\u6cd5<\/p>\n\n\n\n<p>\u808c\u8089\u6d3b\u68c0\uff08Muscle Biopsy\uff09\uff1a\u53d6\u51fa\u4e00\u90e8\u5206\u808c\u8089\u7ec4\u7ec7\uff0c\u653e\u5927\u955c\u4e0b\u68c0\u67e5\u75c5\u53d8\u7279\u5f81<\/p>\n\n\n\n<p>\u9ad8\u5c14\u5f81\u8c61\uff08Gower\u2019s Sign\uff09\uff1a\u7528\u624b\u652f\u6491\u8eab\u4f53\u7ad9\u8d77\u6765\u7684\u52a8\u4f5c\uff0c\u63d0\u793a\u808c\u529b\u4e0b\u964d<\/p>\n\n\n\n<p>\u80a9\u80db\u7ffc\u72b6\u53d8\u5f62\uff08Scapular Winging\uff09\uff1a\u80a9\u80db\u9aa8\u7a81\u51fa\uff0c\u770b\u8d77\u6765\u50cf\u7fc5\u8180\u4e00\u6837<\/p>\n\n\n\n<p>\u5173\u8282\u631b\u7f29\uff08Contracture\uff09\uff1a\u5173\u8282\u53d8\u5f97\u50f5\u786c\uff0c\u96be\u4ee5\u79fb\u52a8<\/p>\n\n\n\n<p>\u5047\u6027\u80a5\u5927\uff08Pseudohypertrophy\uff09\uff1a\u808c\u8089\u770b\u8d77\u6765\u53d8\u5927\uff0c\u5b9e\u9645\u4e0a\u5185\u90e8\u88ab\u8102\u80aa\u7b49\u66ff\u4ee3\uff0c\u529b\u91cf\u51cf\u5f31<\/p>\n\n\n\n<p>\u8fd9\u662f\u4e00\u79cd\u5f71\u54cd\u808c\u8089\u7684\u6e10\u8fdb\u6027\u75be\u75c5\uff0c\u76ee\u524d\u6ca1\u6709\u6839\u6cbb\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u7269\u7406\u6cbb\u7597\u3001\u836f\u7269\u3001\u8f85\u52a9\u8bbe\u5907\u7b49\u624b\u6bb5\u53ef\u4ee5\u5e2e\u52a9\u7f13\u89e3\u75c7\u72b6\u5e76\u51cf\u7f13\u75c5\u7a0b\u7684\u8fdb\u5c55\u3002\u5982\u679c\u4f60\u6216\u4f60\u7684\u5bb6\u4eba\u6709\u7c7b\u4f3c\u75c7\u72b6\uff0c\u5efa\u8bae\u54a8\u8be2\u4e13\u4e1a\u7684\u533b\u7597\u673a\u6784\u8fdb\u884c\u8fdb\u4e00\u6b65\u7684\u8bca\u65ad\u4e0e\u7ba1\u7406\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2024.1410727\">Feng, Wanjun, et al. \u2018Case Report: A Novel Mutation of the CAPN3 Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy Type 2A\u2019. <em>Frontiers in Genetics<\/em>, vol. 15, Aug. 2024, p. 1410727. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fgene.2024.1410727.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0043-1772833\">Lorenzoni, Paulo Jos\u00e9, et al. \u2018Single-Centre Experience with Autosomal Recessive Limb-Girdle Muscular Dystrophy: Case Series and Literature Review\u2019. <em>Arquivos de Neuro-Psiquiatria<\/em>, vol. 81, no. 10, Oct. 2023, pp. 922\u201333. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1055\/s-0043-1772833.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/cells13040329\">Aguti, Sara, et al. \u2018Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)\u2019. <em>Cells<\/em>, vol. 13, no. 4, Feb. 2024, p. 329. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/cells13040329.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3233\/JND-200547\">Pathak, Pankaj, et al. \u2018Mutational Spectrum of <em>CAPN3<\/em> with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A\/R1 (LGMD2A\/LGMDR1) Patients in India\u2019. <em>Journal of Neuromuscular Diseases<\/em>, vol. 8, no. 1, Oct. 2020, pp. 125\u201336. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3233\/JND-200547.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/22143602251345967\">Bardakov, Sergey N., et al. \u2018Calpainopathy (Limb-Girdle Muscular Dystrophy Type R1): Clinical Features, Diagnostic Approaches, and Biotechnological Treatment Methods\u2019. <em>Journal of Neuromuscular Diseases<\/em>, June 2025, p. 22143602251345967. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1177\/22143602251345967.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3892\/ijmm.2021.5036\">Chen, Lin, et al. \u2018CAPN3: A Muscle\u2011specific Calpain with an Important Role in the Pathogenesis of Diseases (Review)\u2019. <em>International Journal of Molecular Medicine<\/em>, vol. 48, no. 5, Sept. 2021, p. 203. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3892\/ijmm.2021.5036.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/pathophysiology28020016\">\u015eahin, \u0130zem Olcay, et al. \u2018Current and Future Therapeutic Strategies for Limb Girdle Muscular Dystrophy Type R1: Clinical and Experimental Approaches\u2019. <em>Pathophysiology<\/em>, vol. 28, no. 2, May 2021, pp. 238\u201349. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/pathophysiology28020016.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>CAPN3, \u30ab\u30eb\u30d1\u30a4\u30f33, \u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc, LGMDR1, LGMD2A, \u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u30b5\u30eb\u30b3\u30e1\u30a2, \u8fd1\u4f4d\u7b4b, \u9ad8CK\u8840\u75c7, \u80a9\u7532\u9aa8\u7ffc\u72b6\u5909\u5f62, \u62d8\u7e2e, \u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570, \u30a8\u30af\u30bd\u30f3\u30b9\u30ad\u30c3\u30d4\u30f3\u30b0, \u30a6\u30a8\u30b9\u30bf\u30f3\u30d6\u30ed\u30c3\u30c8, \u7b4b\u751f\u691c, \u907a\u4f1d\u5b50\u6cbb\u7642, AAV\u30d9\u30af\u30bf\u30fc, CRISPR-Cas9, \u30ab\u30eb\u30b7\u30a6\u30e0\u6052\u5e38\u6027, SERCA, \u907a\u4f1d\u5b50\u5909\u7570, \u975e\u4fb5\u8972\u8a3a\u65ad, \u7b4b\u518d\u751f, \u547c\u5438\u88dc\u52a9<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/lgmdr1-calpainopathy-overview\"\n  },\n  \"headline\": \"\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08LGMDR1\uff09\u306e\u3084\u3055\u3057\u3044\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": 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