Article
Lafora disease in miniature Wirehaired Dachshunds.
PloS one - 1 Jan 2017
Swain Lindsay, Key Gill, Tauro Anna, Ahonen Saija, Wang Peixiang, Ackerley Cameron, Minassian Berge A, Rusbridge Clare
Abstract excerpt
Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent breed-wide testing suggests that the carrier plus affected rate may be as high as 20%. A characteristic feature of the...
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