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Article

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

American journal of medical genetics. Part A - 30 Apr 2005

Dent K M, Dunn D M, von Niederhausern A C, Aoyagi A T, Kerr L, Bromberg M B, Hart K J, Tuohy T, White S, den Dunnen J T, Weiss R B, Flanigan K M

Abstract excerpt

Mutations in the DMD gene result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Readily available clinical tests detect only deletions of one exon or greater, which are found in approximately 60% of cases. Mutational analysis of other types of DMD mutations, such as premature stop codons and small frameshifting insertions or deletions, has historically been hampered by the large size of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Gene Duplication

Share to Muscular Dystrophy, Duchenne

Share to Mutagenesis, Insertional

Share to Mutation, Missense

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 15723292
DOI: 10.1002/ajmg.a.30617

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

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.PMID 15723292Read ↗

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Semantic proximity Read ↗

Microarray-based mutation detection in the dystrophin gene.Semantic proximity Read ↗

Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns.Semantic proximity Read ↗

Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification.Semantic proximity Read ↗

Improved Molecular Diagnosis of Dystrophin Gene Mutations Using the Multiplex Ligation-Dependent Probe Amplification MethodSemantic proximity Read ↗

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.Semantic proximity Read ↗

Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.Semantic proximity Read ↗

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.Semantic proximity Read ↗

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)Semantic proximity Read ↗

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencingSemantic proximity Read ↗

Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients.Semantic proximity Read ↗

A rare MspI RFLP of the DMD probe p20 (DXS269).Semantic proximity Read ↗

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