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

In Soo Moon, Hyang Sook Kim, Jin Hong Shin, Yeong Eun Park, Kyu Hyun Park, Yong Bum Shin, Jong Seok Bae, Young Chul Choi, Dae Seong Kim

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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.

Original languageEnglish
Pages (from-to)1038-1044
Number of pages7
JournalJournal of Korean medical science
Volume24
Issue number6
DOIs
Publication statusPublished - 2009 Dec

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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    Moon, I. S., Kim, H. S., Shin, J. H., Park, Y. E., Park, K. H., Shin, Y. B., Bae, J. S., Choi, Y. C., & Kim, D. S. (2009). Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. Journal of Korean medical science, 24(6), 1038-1044. https://doi.org/10.3346/jkms.2009.24.6.1038