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Congenital Muscular Dystrophy (CMD or MD) is a muscle disorder causing atrophy and poor growth.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.3285G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CMD |
Informations générales
Congenital Muscular Dystrophy (CMD or MD) is a muscle disorder causing atrophy and poor growth. This particular variant of the disease is caused by a recessive mutation to the gene LAMA2. The variant analysed in this tests occurs in the Italian Greyhound. A related variant also occurs in the Staffordshire Bull Terrier.
Caractéristiques cliniques
Affected dogs present within the first few months of life with an abnormal short-strided gait, occasional vomiting, exercise intolerance, and retarded growth.
Additional Information
Références
Pubmed ID: 34828429
Year published: 2021
Omia ID: 2459
Omia variant ID: