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Myotonia Congenita
Breed: Miniature Schnauzers
Generic Phene Data
Breeds
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Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Myotonia Congenita
OMIA
698
Gene Name
CLCN1
Mutation
c.2665insA
Mutation 2
c.803C>T
Test Type
Genetic Disease/Disorder
Details
Myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. Signs include: stiff gait, skeletal muscle hypertrophy, difficulty swallowing, difficulty standing up/rising, increased respiratory sounds, generalised stiffness, and increased salivation. Age of onset 2-3 months of age. Signs can vary somewhat by breed/type.
Details 2
Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise. (From Finnigan et al, 2007)
Published
Finnigan, DF., Hanna, WJ., Poma, R., Bendall, AJ. : A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med 21:458-63, 2007. Pubmed reference: 17552451.
Published 2
Rhodes, T.H., Vite, C.H., Giger, U., Patterson, D.F., Fahlke, C., George, A.L. : A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999. Pubmed reference: 10452529.
Body/System/Process
Muscular
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Australian Cattle Dog, Chow, Great Dane, Miniature Schnauzer, Staffordshire Bull Terrier
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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