Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

Authors: Juliana Gurgel-Giannetti, Adriano S Senkevics, Dinorah Zilbersztajn-Gotlieb, Lydia U Yamamoto, Viviane P Muniz, Rita C M Pavanello, Acary B Oliveira, Mayana Zatz, Mariz Vainzof

Journal, date & volume: Muscle Nerve, 2012 Feb , 45, 279-83

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22246887

Abstract
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia.