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Myotonia Hereditaria (Cattle Dog Type) Overview

Myotonia Hereditaria (Cattle Dog Type)
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Category: Musculoskeletal - Associated with muscles, bones and associated structures

Gene: Chloride voltage-gated channel 1 (CLCN1) on chromosome 16

Variant Detected: c.2703-2704 insertion A p.Arg890Gln-frameshift888

Severity: Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Myotonia congenita (Australian cattle dog type) is an inherited muscle disorder affecting dogs. The muscle cells of an affected dog are over-excitable, which causes muscles to remain contracted rather than relaxing after voluntary activity.

Research Citation(s): Finnigan DF et al. J Vet Intern Med. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. (2007) 21;3, 458-63. [PubMed: 17552451]

Associated Breed(s): Australian Cattle Dog,  Mixed Breed,  Border Collie,  Australian Stumpy Tail Cattle Dog,