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: Scale 1 has a very low degree of 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,