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Dog DNA testing illustration

X-linked Myotubular Myopathy (XLMTM) – Labrador Retriever

Code: H427

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

X-Linked Myotubular Myopathy (MTM1 or XLMTM) is a muscle disease characterised by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes.

General information

X-Linked Myotubular Myopathy (MTM1 or XLMTM) is a muscle disease characterised by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes. The disorder is caused by an X-linked recessive mutation to the gene MTM1.

The variant of the disorder analysed in this test is found in the Labrador Retriever. Related variants have been observed in the Rottweiler and Boykin Spaniel.

Specifications

Breeds

Australian Labradoodle, Labrador Retriever
Gene

MTM1
Chromosome

X
Mutation

c.465C>A
Organ

Muscles
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

X-Linked Recessive
Also known as

XLMTM

Clinical features

This disease is characterised by severe muscle atrophy, absence of patellar reflexes and a dropped jaw caused by weakness of the muscles of mastication.

References

Pubmed ID: 20682747

Year published: 2010

Omia ID: 1508

Omia variant ID:

Turnaround information

  • 15 working days