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H749

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

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 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).

Clinical features

Extra information

References

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