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Centronuclear Myopathy (CNM) is the common name for inherited muscular diseases which are characterised primarily by muscle weakness - and 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 wasting. It is caused by a mutation in the PLTPLA gene.
The disorder 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
PTPLA is also known as HACD1.
References
Pubmed ID: 15829503
Omia ID: 1374
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