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Myotubular Myopathy X-Linked (Rottweiler Type) Overview

Myotubular Myopathy X-Linked (Rottweiler 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.1151A?>?C p.Gln384Pro

Severity: It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): Shelton, DG. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene (2015) Skeletal Muscle 5(1):1.

Associated Breed(s): Rottweiler ,  Mixed Breed,