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X-linked myotubular myopathy (XLMTM) is a well-defined subgroup of the centronuclear myopathies (CNMs) characterized by early onset and the presence of uniformly small muscle fibers with centrally placed nuclei resembling fetal myotubes.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Myotubularin 1 (MTM1) on Chromosome X
Variant Detected:
Base Substitution c.465C>A p.Asn155Lys
Mode of Inheritance:
Recomended Screening:
Research Citation(s):