Congenital myopathies 2

A new dog model was generated with a genetic background based on a DNM2 mutation identified in a male Border Collie. The heterozygous R465W mutation of the DNM2 gene is known in humans to be responsible for a form of centronuclear myopathy (CNM). Pups developed from zygotes obtained after fertilization of Beagle oocytes with spermatozoa from the affected Border Collie. The outbred nature and the large size of the dogs contribute to their added value because they help better predict safety of translated treatments.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: Y. Fromes, I. Barth élémy, L. Tiret, J. Boisserie, J. Le Louër, H. Reyngoudt, B. Marty Source Type: research