X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.

Inès BarthélémyNadège CalmelsRobert B WeissLaurent TiretAdeline VulinNicolas WeinCécile PeccateCarole DrougardChristophe BeroudNathalie DeburgraveJean-Laurent ThibaudCatherine EscriouIsabel PunzónLuis GarciaJean-Claude KaplanKevin M FlaniganFrance LeturcqStéphane Blot

Published in: Skeletal muscle (2020)

This study provides a full comparative description of a new spontaneous canine model of dystrophinopathy, found to be phenotypically equivalent to the GRMD model. We report a novel large DNA mutation within the DMD gene and provide evidence that LRMD is a relevant model to pinpoint additional DMD modifier genes.

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
genome wide
single molecule
gene expression
copy number
transcription factor