A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

Abstract Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. Case...

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Bibliographic Details
Main Authors: Jing Miao, Xiao-jing Wei, Xue-mei Liu, Zhi-xia Kang, Yan-lu Gao, Xue-fan Yu
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Neurology
Subjects:
Myotonia congenita
Autosomal recessive
Case report
CLCN1 gene
Online Access:http://link.springer.com/article/10.1186/s12883-018-1153-x

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