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Myotonia Congenita
Breed: Schnauzer/ black
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Muscular Hypertrophy
Gene Name
CLCN1
Mutation
c.803C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Muscular Hypertrophy
GTP Disease Synonym
Myotonia Congenita (Schnauzer Type)
Gene Name
CLCN1
Mutation
c.803C>T
Nature of test
mutation test
FCI Number
182
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
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