Peer-reviewed veterinary case report
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
- Journal:
- Neuromuscular disorders : NMD
- Year:
- 2012
- Authors:
- Wijnberg, Inge D et al.
- Affiliation:
- Department of Equine Sciences · Netherlands
- Species:
- horse
Plain-English summary
A 7-month-old New Forest pony was brought in because it was having trouble standing up and was very stiff, which were signs of a condition called congenital myotonia (a muscle disorder). Tests showed that the pony had a specific change in its CLCN1 gene, which is known to cause similar issues in other animals and humans. This genetic change was inherited from both parents, suggesting that it runs in the family. The findings indicate that this mutation is likely responsible for the pony's muscle problems.
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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/22197188/