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Myotubular Myopathy X-Linked (Labrador Retriever Type)

Description

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.

Recommended Breeding

Diseases

Myotubular Myopathy X-Linked (Labrador Retriever Type)

$ 50.00

1

Associated Breed(s):

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Labels:

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

Myotubularin 1 (MTM1) on Chromosome X

Variant Detected:

Base Substitution c.465C>A p.Asn155Lys

Mode of Inheritance:

Autosomal X-Linked

OMIA Reference:

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