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Myotonia congenita also known as myotonia hereditaria (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.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Chloride voltage-gated channel 1 (CLCN1) on chromosome 16
Variant Detected:
c.2703-2704 insertion A p.Arg890Gln-frameshift888
Mode of Inheritance:
Recomended Screening:
Research Citation(s):