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Article

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.

Human mutation - 1 May 2008

Kesari Akanchha, Pirra Laura N, Bremadesam Lakshmi, McIntyre Orinthal, Gordon Erynn, Dubrovsky Alberto L, Viswanathan V, Hoffman Eric P

Abstract excerpt

Becker muscular dystrophy (BMD) is a milder form of X-linked Duchenne muscular dystrophy (DMD). Here, we report a study of 75 patients with immunoblot and/or immunostaining findings of muscle biopsy consistent with BMD (abnormal dystrophin). We utilized multiplex ligation dependent probe amplification (MLPA) on genomic DNA (gDNA) to screen all 79 exons for both deletions and duplications. A total of 19 patients...

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

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Source

Identifiers

PMID: 18348289
DOI: 10.1002/humu.20722

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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Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.PMID 18348289Read ↗

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