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.
Related projects:	Molecular basis of cell and tissue regulations