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H427

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

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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

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.

Additional information

References

Pubmed ID: 20682747

Omia ID: 1508

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3. Results

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