NHLRC1 repeat expansion in two beagles with Lafora disease

• Published in: Journal of small animal practice Vol. 57; no. 11; pp. 650 - 652
• Main Authors: Hajek, I., Kettner, F., Simerdova, V., Rusbridge, C., Wang, P., Minassian, B. A., Palus, V.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.11.2016; Wiley Subscription Services, Inc
• Subjects: Animals; Carrier Proteins - genetics; Dog Diseases - genetics; Dogs; Expansion; Female; Gene Expression Regulation; Lafora Disease - genetics; Lafora Disease - veterinary; Male; Mutation; Pedigree

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...