Gene involved DMD
Mutation tested c.7293+5G>T
Transmission mode : X-linked recessive
Publication : Walmsley et al. (2010). A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping.
Gene involved DMD
Mutation tested c.6051-6057delTCTCAAT
Transmission mode : X-linked recessive
Publication : Nghiem et al. (2016). Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.
Gene involved DMD
Mutation tested A>G intron 6 splice acceptor site (GRMD)
Transmission mode : X-linked recessive
Publication : Sharp et al. (1992). An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy.
Gene involved DMD
Mutation tested 2.2 Mb inversion (LRMD)
Transmission mode : X-linked recessive
Publication : Barthélémy et al. (2020). X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.