Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

doi:10.3390/genes17010012

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Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

Genes - 24 Dec 2025

Barbarii Teodora, Tudorache Raluca Anca, Craiu Dana, Neagu Elena, Brinduse Lacramioara Aurelia, Burloiu Carmen Magdalena, Iliescu Catrinel Mihaela, Budisteanu Magdalena, Minciu Ioana, Barca Diana Gabriela, Sandu Carmen, Tarta-Arsene Oana, Pomeran Cristina, Motoescu Cristina, Dica Alice, Anghelescu Cristina, Surlica Dana, Toma Adrian Ioan, Butoianu Niculina

Abstract excerpt

BACKGROUND: Duchenne/Becker muscular dystrophy (DMD/BMD) is associated with a wide spectrum of brain-related comorbidities. METHODS: This retrospective study assesses the neuropsychiatric profile of DMD/BMD patients and the hypothesis of a functional-versus-structural approach of dystrophin gene variants/impaired isoforms in relation to brain comorbidities. Patients with documented mutation in the DMD gene and...

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PMID: 41595432
DOI: 10.3390/genes17010012
PMCID: PMC12841320

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