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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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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 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).
Caractéristiques cliniques
Les caractéristiques cliniques sont variables et progressives et comprennent, entre autres: faiblesse musculaire généralisée - et émaciation, paupières supérieures tombantes (ptose) et faiblesse des muscles oculaires (ophtalmoplégie externe).
Additional Information
Références
Pubmed ID: 15829503
Omia ID: 1374