Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.

Authors: Inge D Wijnberg, Marta Owczarek-Lipska, Roberta Sacchetto, Francesco Mascarello, Francesco Pascoli, Walter Grünberg, Johannes H van der Kolk, Cord Drogemuller

Journal, date & volume: Neuromuscul. Disord., 2012 Apr , 22, 361-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22197188

Abstract
A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a possible cause of congenital myotonia.