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Article

Neurocognitive and autism spectrum profiles associated with dystrophin isoform disruption in childhood dystrophinopathies: insights from a Brazilian cohort.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2026

Albuquerque Marco Antônio Veloso, Dias Sarah Leonardo, Lima Karla Danielle, Kok Fernando, Zanoteli Edmar

Abstract excerpt

AIM: To examine the association between dystrophin isoform disruption and cognitive and behavioral outcomes, including autism spectrum disorder (ASD), in a large cohort of boys with Duchenne muscular dystrophy (DMD) and related dystrophinopathies. METHOD: In this retrospective cohort study (2014-2025), 161 boys with genetically confirmed dystrophinopathy (145 DMD, 14 Becker muscular dystrophy, and 2 intermediate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42034354
DOI: 10.1016/j.ejpn.2026.04.002

Genes

DMD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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