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Article

Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron.

American journal of medical genetics - 2 Oct 1996

Todoroya A, Bronzova J, Miorin M, Rosa M, Kremensky I, Danieli G A

Abstract excerpt

For the first time in Bulgaria, a deletion/duplication screening was performed on a group of 84 unrelated Duchenne/Becker muscular dystrophy patients, and the breakpoint distribution in the dystrophin gene was analyzed. Intragenic deletions were detected in 67.8% of patients, and intragenic duplications in 2.4%. A peculiar distribution of deletion breakpoints was found. Only 13.2% of the deletion breakpoints fell...

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Source

Identifiers

PMID: 8914739
DOI: 10.1002/(SICI)1096-8628(19961002)65:1<40::AID-AJMG6>3.0.CO;2-1

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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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