Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.

doi:10.1007/BF00206068

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.

Human genetics - 1 Dec 1991

Claustres M, Tuffery S, Chevron M P, Jozelon M P, Martinez P, Echenne B, Demaille J

Abstract excerpt

We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) were detected by multiplex polymerase chain reaction. All these deletions have been delineated with regard to the...

Topics

Adolescent
Blotting, Southern
Child
Child, Preschool
Chromosome Deletion
DNA Probes
Deoxyribonuclease HindIII
Dystrophin
Exons
France
Humans
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Muscular Dystrophies

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Open in PubMed

Identifiers

PMID: 1684565
DOI: 10.1007/BF00206068

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1684565-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.PMID 1684565Read ↗

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.Semantic proximity Read ↗

Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies.Semantic proximity Read ↗

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.Semantic proximity Read ↗

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.Semantic proximity Read ↗

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families.Semantic proximity Read ↗

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.Semantic proximity Read ↗

Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR.Semantic proximity Read ↗

Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Semantic proximity Read ↗

Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method.Semantic proximity Read ↗

Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis.Semantic proximity Read ↗

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.Semantic proximity Read ↗

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.