Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.

Abstract excerpt

BACKGROUND AND OBJECTIVES: Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. Genotypic and phenotypic characteristics of CM may vary according to...

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