Article
NHLRC1 repeat expansion in two beagles with Lafora disease.
The Journal of small animal practice - 1 Nov 2016
Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian B A, Palus V
Abstract excerpt
Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in...
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