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Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.

Prenatal diagnosis - 1 Aug 2022

Cohen Gal, Shtorch-Asor Atalia, Ben-Shachar Shay, Goldfarb-Yaacobi Racheli, Kaiser Meirav, Rosenfeld Revital, Vinovezky Mika, Irge Dana, Furman Yael, Reiss Dafni, Litz-Philipsborn Shira, Sukenik-Halevy Rivka

Abstract excerpt

OBJECTIVE: Large deletions and duplications account for 65%-80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected in a cohort of women screened for DMD carrier status and analyzed screening efficacy and challenges related to DMD population screening. METHODS: A cohort of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35751502
DOI: 10.1002/pd.6201
PMCID: PMC9546335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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