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Myotonia Congenita

Breed: Australian Cattle Dog

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

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CLCN1
Mutation
c.2665insA

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Gene Name
CLCN1
Mutation
c.2665insA
Inheritance
AR
GTP Breed
Australian Cattle Dog

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CLCN1
Mutation
c.2665insA

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CLCN1
Mutation
c.2665insA

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CLCN1
Mutation
c.2665insA

Paw Print Genetics

GTP Name
Paw Print Genetics
Gene Name
CLCN1
Mutation
c.2665insA
GTP Breed
Australian Cattle Dog

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Gene Name
CLCN1
Mutation
c.2665insA
Inheritance
AR
GTP Breed
Australian Cattle Dog

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CLCN1
Mutation
c.2665insA

INNO

GTP
GTP Name
INNO
Gene Name
CLCN1
Mutation
c.2665insA

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Gene Name
CLCN1
Mutation
c.2665insA
Inheritance
AR
GTP Breed
Australian Cattle Dog

DNA My Dog

GTP Name
DNA My Dog
Gene Name
CLCN1
Mutation
c.2665insA
Inheritance
AR
GTP Breed
Australian Cattle Dog

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CLCN1
Mutation
c.2665insA

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CLCN1
Mutation
c.2665insA

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Gene Name
CLCN1
Mutation
c.2665insA
Inheritance
AR
GTP Breed
Australian Cattle Dog

BioBank AS

GTP Name
BioBank AS
Gene Name
CLCN1
Mutation
c.2665insA

Anicom

GTP
GTP Name
Anicom
Gene Name
CLCN1
Mutation
c.2665insA

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CLCN1
Mutation
c.2665insA
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