article_metadata: Nurul Huda Musa Karuppiah Thilakavathy Nur Afiqah Mohamad Marina L Kennerson Liyana Najwa Inche Mat Wei Chao Loh Anna Misyail Abdul Rashid Janudin Baharin Azliza Ibrahim Wan Aliaa Wan Sulaiman Fan Kee Hoo Hamidon Basri Abdul Hanif Khan Yusof Khan
article_metadata: 10.3389/fgene.2022.972007
article_metadata: Front Genet
article_metadata: 2023 Jan 3;13:972007.
article_metadata: clcn1 thomsen disease autosomal dominant case report chloride channel myotonia congenita
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36659963/
article_metadata: Case Reports
article_metadata: PMC9842662
article_metadata: 36659963
article_metadata: Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
article_metadata: 2023