Article
NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.
The Journal of small animal practice - 1 Nov 2021
Mari L, Comero G, Mueller E, Kuehnlein P, Kehl A
Abstract excerpt
Lafora disease is a genetic disease caused, in humans, by mutations in EPM2A and NHLRC1 genes, resulting in accumulation of polyglucosan bodies within neurons. Affected subjects present progressive neurological signs characterised primarily by myoclonic epilepsy. In dogs, Lafora disease has been described mainly in miniature wire-haired Dachshunds, where a dodecamer expansion in NHLRC1 gene has been identified....
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