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

بواسطة 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.
الحاوية / القاعدة Frontiers in Genetics (2023)