Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness. There is a lack of MC case reports and data on the prevale...
| 出版年: | Frontiers in Genetics |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Frontiers Media S.A.
2023
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| オンライン･アクセス: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146300339&doi=10.3389%2ffgene.2022.972007&partnerID=40&md5=bb54fa1b1c44a3413b3d63dc5ef0a1a8 |