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Centronuclear Myopathy (CNM) is the common name for inherited muscular diseases which are characterised primarily by muscle weakness and muscle wasting.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Centronuclear Myopathy (CNM) is the common name for inherited muscular diseases which are characterised primarily by muscle weakness and muscle wasting. This variant of the disorder, found in the Labrador Retriever, is caused by a recessive mutation in the gene HACD1 (also known as PTPLA).
The variant is also known as type II fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy of Labrador Retrievers (HMLR).
Clinical features
Clinical features are variable and progressive and include a.o.: Generalized muscle weakness - and wasting, drooping upper eyelids (ptosis) and weakness of the eye muscles (ophthalmoplegia externa).
Additional information
References
Pubmed ID: 15829503
Omia ID: 1374