Affected gene: DMD
Inheritance: X-Linked Recessive
Mutation: CanFam3.1    5    g.42186445A>G    c.764A>G
OMIA link: 001081-9615

Breeds: Golden Retriever

Symptoms:
Muscular dystrophy or Duchenne muscular dystrophy is caused by an absence of the protein dystrophin which is necessary for muscle function. Symptoms begin around 8 to 10 weeks of age and include a sluggish gait (bunny hopping), inability to open the jaw, difficulty feeding, excessive salivation and curvature of the spine and ribs. Heart muscle damage usually occurs after 6 months of age. Breeding of affected or carrier animals should be avoided.

References:
Brinkmeyer-Langford C, Kornegay JN. Comparative genomics of X-linked muscular dystrophies: The Golden Retriever Model. Curr Genomics. 2013 Aug;14(5):330-42. doi: 10.2174/13892029113149990004. [PubMed: 24403852]
Kornegay JN, Bogan JR, Bogan DJ, Childers MK, Li J, Nghiem P, Detwiler DA, Larsen CA, Grange RW, Bhavaraju-Sanka RK, Tou S, Keene BP, Howard JF, Jr., Wang J, Fan Z, Schatzberg SJ, Styner MA, Flanigan KM, Xiao X, Hoffman EP. Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies. Mamm Genome. 2012 Feb;23(1-2):85-108. doi: 10.1007/s00335-011-9382-y. Epub 2012 Jan 5. Review. [PubMed: 22218699]
Sharp NJ, Kornegay JN, Van Camp SD, Herbstreith MH, Secore SL, Kettle S, Hung WY, Constantinou CD, Dykstra MJ, Roses AD, Bartlett RJ. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 1992 May;13(1):115-21. [PubMed: 1577476]