Congenital Muscular Dystrophy (CMD) – Italian Greyhound
Code: H967
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Short description
Congenital Muscular Dystrophy (CMD or MD) is a muscle disorder causing atrophy and poor growth.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | LAMA2 |
| Chromosome | 1 |
| Mutation | c.3285G>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CMD |
Clinical features
Affected dogs present within the first few months of life with an abnormal short-strided gait, occasional vomiting, exercise intolerance, and retarded growth.
References
Pubmed ID: 34828429
Year published: 2021
Omia ID: 2459
Omia variant ID:
Turnaround information
- 15 working days