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Myotonia Congenita

Breed: Miniature Schnauzer/ Black and silver

Generic Phene Data

General

Disease Name
Myotonia Congenita
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.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CLCN1
Mutation
c.803C>T

Anicom

GTP
GTP Name
Anicom
Gene Name
CLCN1
Mutation
c.803C>T

BioBank AS

GTP Name
BioBank AS
Gene Name
CLCN1
Mutation
c.803C>T

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CLCN1
Mutation
c.803C>T

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CLCN1
Mutation
c.803C>T

INNO

GTP
GTP Name
INNO
Gene Name
CLCN1
Mutation
c.803C>T

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CLCN1
Mutation
c.803C>T

Paw Print Genetics

GTP Name
Paw Print Genetics
Gene Name
CLCN1
Mutation
c.803C>T

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CLCN1
Mutation
c.803C>T

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CLCN1
Mutation
c.803C>T

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CLCN1
Mutation
c.803C>T

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CLCN1
Mutation
c.803C>T
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