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Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Neurogenetics - 1 Jul 2024

Ozkalayci Hande, Bora Elcin, Cankaya Tufan, Kocabey Mehmet, Zubari Nadide Cemre, Yis Uluc, Giray Bozkaya Ozlem, Turan Serkan, Pekcanlar Akay Aynur, Caglayan Ahmet Okay, Ulgenalp Ayfer

Abstract excerpt

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscle diseases caused by dystrophin gene mutations. Eight hundred thirty-seven patients admitted between 1997 and 2022 were included in the study. Two hundred twenty patients were analyzed by multiplex PCR (mPCR) alone. Five hundred ninety-five patients were investigated by multiplex ligation-dependent probe...

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

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Source

Identifiers

PMID: 38850354
DOI: 10.1007/s10048-024-00765-9

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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