Centronuclear Myopathy /Inherited Myopathy (Great Dane Type)

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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,