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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Detalles Bibliográficos
Autores principales: Musa, Nurul Huda, Thilakavathy, Karuppiah, Mohamad, Nur Afiqah, Kennerson, Marina L., Inche Mat, Liyana Najwa, Loh, Wei Chao, Abdul Rashid, Anna Misyail, Baharin, Janudin, Ibrahim, Azliza, Wan Sulaiman, Wan Aliaa, Hoo, Fan Kee, Basri, Hamidon, Yusof Khan, Abdul Hanif Khan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842662/
https://www.ncbi.nlm.nih.gov/pubmed/36659963
http://dx.doi.org/10.3389/fgene.2022.972007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842662/
https://www.ncbi.nlm.nih.gov/pubmed/36659963
http://dx.doi.org/10.3389/fgene.2022.972007

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