Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Journal of Korean Medical Science
In-Soo MoonDae-Seong Kim

Abstract

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 regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.

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Citations

Aug 12, 2015·Channels·Xiao-Li LiuLi Cao
Oct 30, 2016·Neuromuscular Disorders : NMD·Yukiko MoriYukio Ando
Mar 10, 2015·Journal of Clinical Neurology·Tai Seung NamMyeong Kyu Kim
Jan 16, 2010·Journal of Clinical Neurology·Sang-Chan LeeDae-Seong Kim
Jul 17, 2010·Current Opinion in Neurology·Dipa L Raja Rayan, Michael G Hanna
Jul 15, 2017·The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology·Hyung Jin ChinInsuk So

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