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Myotubular Myopathy X-Linked (Labrador Retriever Type)

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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,

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