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Centronuclear Myopathy /Inherited Myopathy (Great Dane Type)

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Test Overview:

Do not breed affected dogs (homozygous for the BIN1 mutation) to prevent affected litters. Avoid breeding two carriers, as this results in a 25% chance of producing affected puppies. Breed carriers only to genetically clear (non-carrier) dogs, producing no affected puppies but some carriers. Routine genetic testing of breeding stock is strongly recommended to reduce disease incidence while maintaining genetic diversity.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

BIN1

Variant Detected:

chr19:23522400 (canFam3): A>G

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

Recommended Screening:

Genetic testing of the BIN1 gene will reliably determine if a dog is a genetic carrier of inherited Myopathy of Great Danes.

Research Citation(s):

Böhm J, Vasli N, Maurer M, Cowling BS, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J. Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet. 2013 Jun;9(6). [PubMed: 23754947] Feliu-Pascual Lujan A, Shelton GD, Targett MP, Long SN, Comerford EJ, McMillan C, Davies D, Rusbridge C, Mellor D, Chang KC, Anderson TJ. Inherited myopathy of great Danes. J Small Anim Pract. 2006 May;47(5):249-54. [PubMed: 16674719] McMillan CJ, Taylor SM, Shelton GD. Inherited myopathy in a young Great Dane. Can Vet J. 2006 Sep;47(9):891-3. [PubMed: 17017655]

Associated Breed(s):

Great Dane, Mixed Breed,

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