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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

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

References

Pubmed ID: 15829503

Omia ID: 1374

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1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.