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Article

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.

Neurology - 15 Feb 2022

Zambon Alberto A, Waldrop Megan A, Alles Roxane, Weiss Robert B, Conroy Sara, Moore-Clingenpeel Melissa, Previtali Stefano, Flanigan Kevin M

Abstract excerpt

BACKGROUND AND OBJECTIVES: To describe the phenotypic spectrum of dystrophinopathy in a large cohort of individuals with DMD exon 2 duplications (Dup2), who may be particularly amenable to therapies directed at restoring expression of either full-length dystrophin or nearly full-length dystrophin through utilization of the DMD exon 5 internal ribosome entry site (IRES). METHODS: In this retrospective...

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Identifiers

PMID: 34937785
DOI: 10.1212/WNL.0000000000013246
PMCID: PMC8865888

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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