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

Wijnberg, I D; Owczarek-Lipska, Marta; Sacchetto, R; Mascarello, F; Pascoli, F; Grunberg, W; van der Kolk J. H., ; Drögemüller, Cord (2012). 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, 22(4), pp. 361-7. Amsterdam: Elsevier 10.1016/j.nmd.2011.10.001

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	05 Veterinary Medicine > Research Foci > Veterinary Public Health / Herd Health Management 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
UniBE Contributor:	Owczarek, Marta, Drögemüller, Cord
Subjects:	500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture
ISSN:	0960-8966
Publisher:	Elsevier
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:32
Last Modified:	05 Dec 2022 14:10
Publisher DOI:	10.1016/j.nmd.2011.10.001
Web of Science ID:	000303143500009
URI:	https://boris.unibe.ch/id/eprint/12280 (FactScience: 218596)