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KMID : 0359720160340030220
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Journal of the Korean Neurological Association
2016 Volume.34 No. 3 p.220 ~ p.223
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Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
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Park Jin-Sung
Hwang Sun-Jae
Shin Jin-Hong
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Abstract
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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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KEYWORD
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Myotonia congenita, CLCN1, Phenotype variability
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