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Article

Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.

Pediatric research - 1 Jan 2003

Adachi Kayo, Takeshima Yasuhiro, Wada Hiroko, Yagi Mariko, Nakamura Hajime, Matsuo Masafumi

Abstract excerpt

The molecular background of an intermediate type of dystrophinopathy [Duchenne and Becker muscular dystrophy (DMD/BMD)] remains to be clarified, and out-of -frame and in-frame mutations of the dystrophin gene are shown to be causes of DMD and BMD, respectively. In a boy with this disease, dystrophin mRNA extracted from lymphocytes and muscle were analyzed both qualitatively and quantitatively using reverse...

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Source

Identifiers

PMID: 12508091
DOI: 10.1203/00006450-200301000-00021

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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