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Article

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.

Journal of medical genetics - 1 Jun 2023

Segarra-Casas Alba, Domínguez-González Cristina, Hernández-Laín Aurelio, Sanchez-Calvin Maria Teresa, Camacho Ana, Rivas Eloy, Campo-Barasoain Andrea, Madruga Marcos, Ortez Carlos, Natera-de Benito Daniel, Nascimento Andrés, Codina Anna, Rodriguez Maria Jose, Gallano Pia, Gonzalez-Quereda Lidia

Abstract excerpt

BACKGROUND: Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing. METHODS: RNA was extracted from seven muscle biopsy...

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Identifiers

PMID: 36535754
DOI: 10.1136/jmg-2022-108828
PMCID: PMC10313949

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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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