Mutational Spectrum of DMD Gene Variants and Cascade Screening Outcomes in the Central-Eastern Black Sea Region of Türkiye: A Single-Centre Retrospective Study.

doi:10.1007/s11033-026-12785-9

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Mutational Spectrum of DMD Gene Variants and Cascade Screening Outcomes in the Central-Eastern Black Sea Region of Türkiye: A Single-Centre Retrospective Study.

Molecular biology reports - 22 Sept 2026

Doğan Çağrı, Aydın Seren

Abstract excerpt

BACKGROUND: Duchenne and Becker muscular dystrophies arise from pathogenic variants in the DMD gene at Xp21.2. Their spectrum is uncharacterised in the Central-Eastern Black Sea region of Türkiye. METHODS: We reviewed all consecutive individuals tested for DMD variants at our centre from January 2022 to February 2026. Multiplex ligation-dependent probe amplification was available in 45 of 47 and whole-gene...

Read the complete abstract on PubMed

Topics

Humans
Dystrophin
Muscular Dystrophy, Duchenne
Female
Mutation
Retrospective Studies
Male

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

Child

Child, Preschool

Heterozygote

Black Sea

Turkey

Genetic Testing

DNA Mutational Analysis

Source

Open in PubMed

Identifiers

PMID: 42771065
DOI: 10.1007/s11033-026-12785-9

Genes

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