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
10.3389/fgene.2022.972007
Front Genet
2023 Jan 3;13:972007.
clcn1 thomsen disease autosomal dominant case report chloride channel myotonia congenita
CC BY
https://pubmed.ncbi.nlm.nih.gov/36659963/
Case Reports
PMC9842662
36659963
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
2023