Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita

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...

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Autori principali: Moon, In-Soo, Kim, Hyang-Sook, Shin, Jin-Hong, Park, Yeong-Eun, Park, Kyu-Hyun, Shin, Yong-Bum, Bae, Jong Seok, Choi, Young-Chul, Kim, Dae-Seong
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Academy of Medical Sciences 2009
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775849/
https://ncbi.nlm.nih.gov/pubmed/19949657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2009.24.6.1038
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