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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.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
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.
Caratteristiche cliniche
Questa malattia è caratterizzata da grave atrofia muscolare, assenza di riflessi rotulei e una mascella caduta causata dalla debolezza dei muscoli della masticazione.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 20682747
Omia ID: 1508