Generic Phene Data
Breeds
Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds
GTPs
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
GTP Name
Agrotis S.r.l.
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Anicom
GTP
GTP Name
Anicom
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Antagene
GTP
GTP Name
Antagene
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Inheritance
AR
GTP Breed
Miniature Schnauzer/ Black
BioBank AS
GTP
GTP Name
BioBank AS
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
CAG GmbH Center for Animal Genetics
GTP Name
Center for Animal Genetics
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Inheritance
AR
GTP Breed
Miniature Schnauzer/ Black
Certagen GmbH
GTP
GTP Name
Certagen GmbH
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
CMSCH
GTP
GTP Name
CMSCH
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Embark
GTP
GTP Name
Embark
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Inheritance
AR
GTP Breed
Miniature Schnauzer/ Black
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Genoscoper Laboratories Oy
GTP Name
Genoscoper Laboratories Oy
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Inheritance
AR
GTP Breed
Miniature Schnauzer/ Black
INNO
GTP
GTP Name
INNO
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Laboratorios Labocor S.L.
GTP Name
Laboratorios Labocor S.L.
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Laboklin Gmbh & Co. KG
GTP Name
Laboklin Gmbh & Co. KG
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Inheritance
AR
GTP Breed
Miniature Schnauzer/ Black
Paw Print Genetics
GTP Name
Paw Print Genetics
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
GTP Breed
Miniature Schnauzer/ Black
PharmaDNA
GTP
GTP Name
PharmaDNA
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Wisdom Health (formerly Mars Veterinary)
GTP Name
Wisdom Health (formerly Mars Veterinary)
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
Inheritance
AR
GTP Breed
Miniature Schnauzer/ Black
Zoolyx
GTP
GTP Name
Zoolyx
OMIA
Gene Name
CLCN1
Mutation
c.803C>T
