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Article

Multiple mutation in an extended Duchenne muscular dystrophy family.

Journal of medical genetics - 1 Feb 1992

Miciak A, Keen A, Jadayel D, Bundey S

Abstract excerpt

We have investigated an extended pedigree with three cousins affected by Duchenne muscular dystrophy with apparent transmission through the male line. However, molecular studies have shown that one boy has a de novo duplication, another has a deletion, and the molecular mutation has yet to be defined in the third boy. All three X chromosomes in the affected boys appear to have a different origin. We speculate on...

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

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Identifiers

PMID: 1351947
DOI: 10.1136/jmg.29.2.123
PMCID: PMC1015852

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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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Multiple mutation in an extended Duchenne muscular dystrophy family.PMID 1351947Read ↗

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Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.Semantic proximity Read ↗

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.Semantic proximity Read ↗

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.Semantic proximity Read ↗

Changing clinical concepts of Duchenne muscular dystrophy: molecular genetic diagnosis.Semantic proximity Read ↗

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