J Korean Neurol Assoc.
2016 Aug;34(3):220-223. 10.17340/jkna.2016.3.10.
Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
- Affiliations
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- 1Department of Neurology, Kyungpook National University School of Medicine, Daegu, Korea.
- 2Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea. shinzh@gmail.com
- KMID: 2345247
- DOI: http://doi.org/10.17340/jkna.2016.3.10
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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