Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

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...

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发表在:Frontiers in Genetics
Main Authors: Musa N.H., Thilakavathy K., Mohamad N.A., Kennerson M.L., Inche Mat L.N., Loh W.C., Abdul Rashid A.M., Baharin J., Ibrahim A., Wan Sulaiman W.A., Hoo F.K., Basri H., Yusof Khan A.H.K.
格式: 文件
语言:English
出版: Frontiers Media S.A. 2023
在线阅读:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146300339&doi=10.3389%2ffgene.2022.972007&partnerID=40&md5=bb54fa1b1c44a3413b3d63dc5ef0a1a8

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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146300339&doi=10.3389%2ffgene.2022.972007&partnerID=40&md5=bb54fa1b1c44a3413b3d63dc5ef0a1a8

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