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H663

Centronuclear Myopathy (CNM) is the common name for a range of 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 a range of inherited muscular diseases which are characterised primarily by muscle weakness and muscle wasting. The variant analysed in this test, observed in the Border Collie, is known as ADCNM or as DNM2-CNM. It is caused by a dominant mutation to the gene DNM2.

Clinical features

Extra information

References

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