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H663

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

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Caractéristiques

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informations générales

Centronuclear Myopathy (CNM) is the common name for a range of inherited 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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 35244154

Omia ID: 2534

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