Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.

doi:10.1007/BF00206071

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Article

Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.

Human genetics - 1 Dec 1991

Bushby K M, Cleghorn N J, Curtis A, Haggerty I D, Nicholson L V, Johnson M A, Harris J B, Bhattacharya S S

Abstract excerpt

We have identified 7 patients with Becker muscular dystrophy (BMD) in whom analysis of dystrophin by immunoblotting shows a full-sized molecule produced at reduced abundance compared with controls. They have no detectable deletion in their dystrophin cDNA. One patient presented atypically with unusually severe cramps as his only symptom for 25 years. These patients were investigated using the polymerase chain...

Topics

Adolescent
Adult
Base Sequence
Child
Chromosome Deletion
Dystrophin
Exons
Genetic Linkage
Humans
Immunoblotting
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Muscular Dystrophies

Mutation

Polymerase Chain Reaction

Promoter Regions, Genetic

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 1757094
DOI: 10.1007/BF00206071

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1757094-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.PMID 1757094Read ↗

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.Semantic proximity Read ↗

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