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Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.
Musa NH, Thilakavathy K, Mohamad NA, Kennerson ML, Inche Mat LN, Loh WC, Abdul Rashid AM, Baharin J, Ibrahim A, Wan Sulaiman WA, Hoo FK, Basri H, Yusof Khan AHK. Musa NH, et al. Front Genet. 2023 Jan 3;13:972007. doi: 10.3389/fgene.2022.972007. eCollection 2022. Front Genet. 2023. PMID: 36659963 Free PMC article.