Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene

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Authors

VOHÁŇKA Stanislav BEDNAŘÍK Josef PÁCLOVÁ Daniela SEDLÁČKOVÁ Jana FAJKUSOVÁ Lenka

Year of publication 2011
Type Article in Periodical
Magazine / Source Ceska a slovenska neurologie a neurochirurgie
MU Faculty or unit

Central European Institute of Technology

Citation
Field Genetics and molecular biology
Keywords myotonia congenita; CLCN1; channelopathy
Description Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsen's myotonia) or a recessive (Becker's myotonia) trait.All the cases but one are sporadic, thus the majority of patients in our population have Becker's form of myotonia congenita.
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