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Inherited Myopathy of Great Danes (IMGD)

Breeds

Relevance Rating: There is some evidence or research available in this breed

General

Disease Name
Inherited Myopathy of Great Danes (IMGD)
Mutation
c.962+1309A>G
Mutation 2
IVS10-2A>G
Test Type
Genetic Disease/Disorder
Details
This myopathy is characterised by young dogs presenting with progressive weakness and generalised muscle atrophy. Symptoms are progressive and include muscle wasting, weakness, irregular gait, and exercise-induced tremor. Age of onset from 6 months. Affected pups are normally euthanized by 12 months of age.
Details 2
A myopathy in the Great Dane dog with characteristic pathological and molecular features is reported. Young adults present with progressive weakness and generalised muscle atrophy...The skeletal muscles of affected dogs exhibited increased oxidative fibre phenotype and core fibre lesions characterised by the disruption of the sarcomeric architecture and the accumulation of mitochondrial organelles. Affected muscles displayed co-ordinated expression of genes consistent with a slow-oxidative phenotype, which was possibly a compensatory response to chronic muscle damage. There was disruption of Z-lines in affected muscles which, at the molecular level, manifested as transcriptional dysregulation of several Z-line associated genes, including alpha-actinin, myotilin, desmin, vimentin and telethonin... (From Chang et al, 2009)
Published
Bohm, J., Vasli, N., Maurer, M., Cowling, B., Shelton, G.D., Kress, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T.J., 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 9:e1003430, 2013. Pubmed reference: 23754947. DOI: 10.1371/journal.pgen.1003430.
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