Globoid Cell Leukodystrophy

Gene involved
GALC

Mutation tested
c.473A>C (GLD)

Transmission mode : Autosomal recessive

Publication : Victoria et al. (1996). Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers.

Gene involved
GALC

Mutation tested
c.790_791ins78bp

Transmission mode : Autosomal recessive

Publication : McGraw et al. (2006). Molecular basis of globoid cell leukodystrophy in Irish setters.