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Article

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

PloS one - 1 Jan 2015

Juan-Mateu Jonas, Gonzalez-Quereda Lidia, Rodriguez Maria Jose, Baena Manel, Verdura Edgard, Nascimento Andres, Ortez Carlos, Baiget Montserrat, Gallano Pia

Abstract excerpt

Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we performed a comprehensive analysis of the DMD mutational spectrum in a large series of families. Here we provide the clinical, pathological and genetic features of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Physiology and Disorders

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Source

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Identifiers

PMID: 26284620
DOI: 10.1371/journal.pone.0135189
PMCID: PMC4540588

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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