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Myotubular Myopathy X-Linked (Labrador Retriever Type)
Test Overview:
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.
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Gene:
Myotubularin 1 (MTM1) on Chromosome X
Variant Detected:
Base Substitution c.465C>A p.Asn155Lys
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal X-Linked
Research Citation(s):
Beggs AH, et al. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers (2010) Proc Natl Acad Sci U S A 107(33);14697-14702.
Associated Breed(s):
Australian Cobberdog, Australian Labradoodle , Cavador, Goldendoodle, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever, Mixed Breed,
