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Article

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.

Human mutation - 1 Jan 1994

Wilton S D, Chandler D C, Kakulas B A, Laing N G

Abstract excerpt

Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked disorders arising from mutations in the (2.4 Mb) dystrophin gene at Xp21. We have applied the reverse transcriptase-polymerase chain reaction (RT-PCR) to identify a larger than normal dystrophin mRNA from a male with Duch...

Topics

Alleles
Base Sequence
Biopsy
Child
Child, Preschool
Dystrophin
Female
Genes
Heterozygote
Humans
Introns
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mosaicism

Muscles

Muscular Dystrophies

Pedigree

Point Mutation

Source

Identifiers

PMID: 8199594
DOI: 10.1002/humu.1380030208

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8199594-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.PMID 8199594Read ↗

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Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.Semantic proximity Read ↗

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