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Centronuclear Myopathy /Inherited Myopathy (Great Dane Type)
Test Overview:
Inherited myopathy in the Great Dane is an autosomal recessive trait characterized by generalized muscle atrophy, exercise intolerance, exercise-induced tremor and muscle wasting. Symptoms of the disease typically appear before 10 months of age and rapidly progress within the next 6-8 months of life before most animals succumb to severe debilitating muscle weakness.
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Gene:
Bridging integrator 1 (BIN1) on chromosome 19
Variant Detected:
IVS10-2 A>G at the exon 11 acceptor splice site of BIN1
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):
Bohm et al. PLOS Genet, Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy (2013) 9;6, e1003430
Associated Breed(s):
Great Dane, Mixed Breed,
