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Article

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Human genetics - 1 Jan 1992

van Essen A J, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone A E

Abstract excerpt

Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues partly because not all mutations can as yet be directly detected, and additionally because genetic ratios are very sensitive to ascertainment bias. In the present...

Topics

Chromosome Deletion
Dystrophin
Female
Genetic Carrier Screening
Humans
Male
Mosaicism
Multigene Family
Muscular Dystrophies
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1733826
DOI: 10.1007/BF00197255

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1733826-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.PMID 1733826Read ↗

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