Article
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Neuromuscular disorders : NMD - 1 Apr 2012
Wijnberg Inge D, Owczarek-Lipska Marta, Sacchetto Roberta, Mascarello Francesco, Pascoli Francesco, Grünberg Walter, van der Kolk Johannes H, Drögemüller Cord
Abstract excerpt
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...
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