- Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
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Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS
- KMID: 1783130
- J Korean Med Sci.
- 2009 Dec;24(6):1038-1044.
- doi: 10.3346/jkms.2009.24.6.1038
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding... -
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