Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Authors: Michael J Lyons, Reyna Duron, Isaac Molinero, Federica Sangiuolo, Kenton R Holden

Journal, date & volume: Pediatr. Neurol., 2010 May , 42, 365-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20399394

Abstract
Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner. Both forms of myotonia congenita are attributable to mutations in the CLCN1 gene. Treatment with a variety of medications has led to long-term improvement in the clinical course of affected individuals. We describe a Honduran boy with myotonia congenita and a novel p.L287I mutation in the CLCN1 gene. The patient's unaffected father carries the same mutation, most likely reflecting autosomal-recessive myotonia congenita, with an inability to find a second mutation. The patient received carbamazepine treatment for 1 year, resulting in decreased muscle stiffness, increased strength, and improved quality of life in school and with peers.