Title |
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
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Published in |
Skeletal Muscle, January 2015
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DOI | 10.1186/s13395-014-0025-3 |
Pubmed ID | |
Authors |
G Diane Shelton, Branden E Rider, Georgina Child, Sophia Tzannes, Ling T Guo, Behzad Moghadaszadeh, Emily C Troiano, Bianca Haase, Claire M Wade, Alan H Beggs |
Abstract |
Congenital and inherited myopathies in dogs are faithful models of human muscle diseases and are being recognized with increasing frequency. In fact, canine models of dystrophin deficient muscular dystrophy and X-linked myotubular myopathy are of tremendous value in the translation of new and promising therapies for the treatment of these diseases. We have recently identified a family of Australian Rottweilers in which male puppies were clinically affected with severe muscle weakness and atrophy that resulted in early euthanasia or death. X-linked myotubular myopathy was suspected based on the early and severe clinical presentation and histopathological changes within muscle biopsies. The aim of this study was to determine the genetic basis for myopathy in these dogs and compare and contrast the clinical presentation, histopathology, ultrastructure, and mutation in this family of Rottweiler dogs with the previously described myotubular myopathy in Labrador retrievers. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 38% |
United Kingdom | 1 | 13% |
Philippines | 1 | 13% |
Unknown | 3 | 38% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 7 | 88% |
Science communicators (journalists, bloggers, editors) | 1 | 13% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 6 | 18% |
Researcher | 5 | 15% |
Student > Bachelor | 4 | 12% |
Lecturer | 3 | 9% |
Student > Master | 3 | 9% |
Other | 5 | 15% |
Unknown | 8 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Veterinary Science and Veterinary Medicine | 9 | 26% |
Medicine and Dentistry | 6 | 18% |
Biochemistry, Genetics and Molecular Biology | 3 | 9% |
Agricultural and Biological Sciences | 3 | 9% |
Psychology | 1 | 3% |
Other | 2 | 6% |
Unknown | 10 | 29% |