Myotubular Myopathy X-Linked (Rottweiler Type)

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:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

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):

Mixed Breed, Rottweiler ,