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NHLRC1 repeat expansion in two beagles with Lafora disease

Hajek, I, Kettner, F, Simerdova, V, Rusbridge, Clare, Wang, P, Minassian, BA and Palus, V (2016) NHLRC1 repeat expansion in two beagles with Lafora disease Journal of Small Animal Practice, 57 (11). pp. 650-652.

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Abstract

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 two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12-nucleotide repeat sequence that is unique to the canine NHLRC1 gene. This is the first mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.

Item Type: Article
Subjects : Veterinary Medicine
Divisions : Faculty of Health and Medical Sciences > School of Veterinary Medicine
Authors :
NameEmailORCID
Hajek, IUNSPECIFIEDUNSPECIFIED
Kettner, FUNSPECIFIEDUNSPECIFIED
Simerdova, VUNSPECIFIEDUNSPECIFIED
Rusbridge, Clarec.rusbridge@surrey.ac.ukUNSPECIFIED
Wang, PUNSPECIFIEDUNSPECIFIED
Minassian, BAUNSPECIFIEDUNSPECIFIED
Palus, VUNSPECIFIEDUNSPECIFIED
Date : 16 October 2016
Identification Number : 10.1111/jsap.12593
Copyright Disclaimer : This is the peer reviewed version of the following article: Hajek, I., Kettner, F., Simerdova, V., Rusbridge, C., Wang, P., Minassian, B. A. and Palus, V. (2016), NHLRC1 repeat expansion in two beagles with Lafora disease. J Small Anim Pract, 57: 650–652. doi:10.1111/jsap.12593which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/jsap.12593/abstract. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Depositing User : Symplectic Elements
Date Deposited : 02 May 2017 15:52
Last Modified : 25 Jul 2017 09:46
URI: http://epubs.surrey.ac.uk/id/eprint/814086

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