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Article

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Human mutation - 1 Apr 2009

Gurvich Olga L, Maiti Baijayanta, Weiss Robert B, Aggarwal Gaurav, Howard Michael T, Flanigan Kevin M

Abstract excerpt

Mutations in the DMD gene result in two common phenotypes associated with progressive muscle weakness: the more severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD). We have previously identified a nonsense mutation (c.9G>A; p.Trp3X) within the first exon of the DMD gene, encoding the unique N-terminus of the 427-kDa muscle isoform of the dystrophin protein. Although this...

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Identifiers

PMID: 19206170
DOI: 10.1002/humu.20913
PMCID: PMC2663021

Genes

DMD

Variants

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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