Myotubular Myopathy X-Linked (Labrador Retriever Type) Overview
Myotubular Myopathy X-Linked (Labrador Retriever Type)
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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: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal X-Linked
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.
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): Labradoodle Retrodoodle , Labrador Retriever, Labradoodle , Cavador, Australian Cobberdog, Australian Labradoodle , Mixed Breed,