Other name: Centronuclear myopathy 2
Affected Gene: Bin1
Inheritance: Autosomal Recessive
Mutation: CanFam3.1    19    g.23522400A>G
OMIA link: 001660-9615

Appropriate breeds for testing: Great Dane

Symptoms:
Hereditary myopathy is a rare disease affecting muscle fiber and is characterized by  exercise intolerance, exercise-induced tremor and muscle wasting. The disease begins around the age of 10 months and the dogs are euthanized around the age of 18 months due to their muscular weakness.
It should be noted that some dogs have been reported to have milder symptoms of the disease and may live to adulthood.
Also, some dogs tested negative for the BIN1 mutation but exhibited disease symptoms suggesting that IMGD encompasses multiple disorders with similar histopathological features.

References:
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):e1003430. doi: 10.1371/journal.pgen.1003430. Epub 2013 Jun 6. Erratum in: PLoS Genet. 2013 Jun;9(6). doi:10.1371/annotation/22ca13f1-1ce9-4bb5-9c9e-98670f7c4240. Cowling, Belinda [corrected to Cowling, Belinda S]. PMID: 23754947; PMCID: PMC3675003.