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

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

Abstract 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...

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Main Authors: Francesco Catapano, Reem Alkharji, Darren Chambers, Simran Singh, Artadokht Aghaeipour, Jyoti Malhotra, Patrizia Ferretti, Rahul Phadke, Francesco Muntoni
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Acta Neuropathologica Communications
Subjects:
Dystrophin
Duchenne muscular dystrophy
Intellectual disability
Human brain
GABAergic neuron
Purkinje neurons
Online Access:https://doi.org/10.1186/s40478-025-01996-z
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