Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

doi:10.3390/genes14010214

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Article

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Genes - 14 Jan 2023

Viggiano Emanuela, Picillo Esther, Passamano Luigia, Onore Maria Elena, Piluso Giulio, Scutifero Marianna, Torella Annalaura, Nigro Vincenzo, Politano Luisa

Abstract excerpt

Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care and family planning, especially at this time when mutation-specific therapies are available. We report a large single-centre study on the spectrum of DMD gene variants observed in...

Topics

Humans
Dystrophin
Muscular Dystrophy, Duchenne
Retrospective Studies
Exons
Mutation

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Identifiers

PMID: 36672955
DOI: 10.3390/genes14010214
PMCID: PMC9859256

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