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Dog DNA testing illustration

Congenital Myasthenic Syndrome (CMS) – Old Danish Pointer

Code: H425

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Congenital myasthenic syndrome (CMS) is a hereditary neuromuscular disorder characterised by severe generalized skeletal muscle weakness and fatigue, usually it manifests itself with exertion.

General information

Congenital myasthenic syndrome (CMS) is a hereditary neuromuscular disorder characterised by severe generalized skeletal muscle weakness and fatigue, usually it manifests itself with exertion.

Specifications

Breeds

Old Danish Pointer
Gene

CHAT
Chromosome

28
Mutation

c.85G>A
Organ

Muscles
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

CMS

Clinical features

Affected dogs are able to run normally for 5–30 min after which they take shorter and shorter strides and eventually fall down with flexed fore- and hindlegs. After some minutes rest, they are able to walk and run again for variable periods of time before the signs reappear.

References

Pubmed ID: 17586598

Year published: 2007

Omia ID: 2072

Omia variant ID:

Turnaround information

  • 15 working days