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Article

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Pediatric neurology - 1 May 2010

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 20399394
DOI: 10.1016/j.pediatrneurol.2010.01.014

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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