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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:Frontiers in Genetics
المؤلفون الرئيسيون: 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.
التنسيق: مقال
اللغة:English
منشور في: Frontiers Media S.A. 2023
الوصول للمادة أونلاين:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146300339&doi=10.3389%2ffgene.2022.972007&partnerID=40&md5=bb54fa1b1c44a3413b3d63dc5ef0a1a8

الانترنت

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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