Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
Journal of the Korean Neurological Association
; : 220-223, 2016.
Article
em Ko
| WPRIM
| ID: wpr-65864
Biblioteca responsável:
WPRO
ABSTRACT
Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1. It characteristically manifests as delayed relaxation of the skeletal muscle or myotonia. It has a wide phenotypic variability, ranging from asymptomatic to severe disability. However, it is uncommon for a phenotypic difference to appear within a family. We report the first Korean family with the p.A313T mutation exhibiting marked phenotypic variability.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Relaxamento
/
Canais de Cloreto
/
Músculo Esquelético
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Doenças Genéticas Inatas
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Miotonia
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Miotonia Congênita
Limite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2016
Tipo de documento:
Article