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COVID 19 UPDATE - our AUS and US offices & genetic testing laboratories remain open.We realise that things are changing quickly, but we remain operating as usual.We will keep up you updated even as other restrictions to different services are introduced.

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Myotubular Myopathy X-Linked (Labrador Retriever Type)

US$ 94.00 RRP

US$ 50.00 (USER PRICE)

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, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever, Mixed Breed,