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Dog DNA testing illustration

Centronuclear Myopathy (CNM) – Border Collie

Code: H663

74,72 €

Sample details

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

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Short description

Centronuclear Myopathy (CNM) is the common name for a range of hereditary muscular diseases which are characterised primarily by muscle weakness and muscle wasting.

General information

Centronuclear Myopathy (CNM) is the common name for a range of hereditary muscular diseases which are characterised primarily by muscle weakness and muscle wasting. The variant analysed in this test, observed in the Border Collie, is known as ADCNM or as DNM2-CNM. It is caused by a dominant mutation to the gene DNM2.

Specifications

Breeds

Border Collie
Gene

DNM2
Chromosome

20
Mutation

c.1393C>T
Organ

Muscles
Specimen

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

Autosomal Dominant
Also known as

ADCNM

Clinical features

Symptoms of ADCNM include low appetite, a “bunny-hopping” gait while running, exercise intolerance, and exercise-induced collapse of the limbs, and general atrophy (wasting) of the muscles. Onset of symptoms is typically around the first year of age.

References

Pubmed ID: 35244154

Year published: 2022

Omia ID: 2534

Omia variant ID:

Turnaround information

  • 15 working days