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Article

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.

Human mutation - 1 Jan 1994

Roberts R G, Gardner R J, Bobrow M

Abstract excerpt

The past few years have seen a rapid increase in our knowledge of naturally occurring mutations in the dystrophin gene. Although earlier studies were limited to gross rearrangement mutations, we are now in a position to draw lessons on the molecular etiology of the remaining one-third of cases of Duchenne and Becker muscular dystrophy (DMD, BMD) which are associated with small mutations. This paper reviews 70...

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Source

Identifiers

PMID: 7951253
DOI: 10.1002/humu.1380040102

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.PMID 7951253Read ↗

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.Semantic proximity Read ↗

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.Semantic proximity Read ↗

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.Semantic proximity Read ↗

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.Semantic proximity Read ↗

Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examplesSemantic proximity Read ↗

Point mutations in the dystrophin gene.Semantic proximity Read ↗

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.Semantic proximity Read ↗

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.Semantic proximity Read ↗

Structural Perturbations of Exon Skipping Edits within the Dystrophin D20:24 RegionSemantic proximity Read ↗

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.Semantic proximity Read ↗

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Semantic proximity Read ↗

In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.Semantic proximity Read ↗

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