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H749

Centronuclear Myopathy (CNM) is the common name for inherited muscular diseases which are characterised primarily by muscle weakness - and wasting.

10 working days

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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3. Results

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