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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775849/
https://www.ncbi.nlm.nih.gov/pubmed/19949657
http://dx.doi.org/10.3346/jkms.2009.24.6.1038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775849/
https://www.ncbi.nlm.nih.gov/pubmed/19949657
http://dx.doi.org/10.3346/jkms.2009.24.6.1038

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