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Article

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Apr 2017

Nghiem Peter P, Bello Luca, Balog-Alvarez Cindy, López Sara Mata, Bettis Amanda, Barnett Heather, Hernandez Briana, Schatzberg Scott J, Piercy Richard J, Kornegay Joe N

Abstract excerpt

Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used...

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Identifiers

PMID: 28028563
DOI: 10.1007/s00335-016-9675-2
PMCID: PMC5371640

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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