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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.
10 working days
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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