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Myotonia Congenita

Breed: Miniature Schnauzers

Generic Phene Data

General

Disease Name
Myotonia Congenita
OMIA
698
Gene Name
CLCN1
Mutation
c.2665insA
Mutation 2
c.803C>T
OMIM
160800
OMIM 2
255700
Disease Code
MC
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Muscular Hypertrophy
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
Inheritance
AR
Gene Name Text
chloride channel, voltage-sensitive 1

Breed Specific Data

EVG Diagnostics

Link to GTP
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Am J Vet Res. 2002 Oct;63(10):1443-7
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