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Article

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

Journal of neurology - 1 Sept 2011

Magri Francesca, Govoni Alessandra, D'Angelo Maria Grazia, Del Bo Roberto, Ghezzi Serena, Sandra Gandossini, Turconi Anna Carla, Sciacco Monica, Ciscato Patrizia, Bordoni Andreina, Tedeschi Silvana, Fortunato Francesco, Lucchini Valeria, Bonato Sara, Lamperti Costanza, Coviello Domenico, Torrente Yvan, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation. We revised the main aspects of the natural history of dystrophinopathies to...

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Identifiers

PMID: 21399986
DOI: 10.1007/s00415-011-5979-z

Genes

DMD

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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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