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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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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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).
Caratteristiche cliniche
Le caratteristiche cliniche sono variabili e progressive e comprendono tra l'altro: debolezza muscolare generalizzata - e atrofia, palpebre superiori cadenti (ptosi) e debolezza dei muscoli oculari (oftalmoplegia esterna).
Informazioni aggiuntive
Riferimenti
Pubmed ID: 15829503
Omia ID: 1374
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