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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: 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

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,