Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita.

Author: Jin Sung PARK ¹ ; Sun Jae HWANG ; Jin Hong SHIN
Author Information

1. Department of Neurology, Kyungpook National University School of Medicine, Daegu, Korea.
Publication Type:Case Report
Keywords: Myotonia congenita; CLCN1; Phenotype variability
MeSH: Chloride Channels; Genetic Diseases, Inborn; Humans; Muscle, Skeletal; Myotonia Congenita*; Myotonia*; Relaxation
From:Journal of the Korean Neurological Association 2016;34(3):220-223
CountryRepublic of Korea
Language:Korean
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.