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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 Duchenne muscular dystrophy and his younger affected brother. The increased size of the dystrophin mRNA was due to a...

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Source

Identifiers

PMID: 8199594
DOI: 10.1002/humu.1380030208

Genes

DMD

Provenance

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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Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.Semantic proximity Read ↗

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