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A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain

21 May 2025

Abstract excerpt

Mutations in the dystrophin gene (DMD) cause the severe muscle-wasting disease Duchenne muscular dystrophy (DMD). Additionally, there is a high incidence of intellectual disability and neurobehavioural comorbidities in individuals with DMD. Similar behavioural abnormalities are found in mdx dystrophic mouse models. Unlike muscle, several dystrophin isoforms are expressed in the human brain, but a detailed map of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40400011
DOI: 10.1186/s40478-025-01996-z

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