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Article

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy.

Disease models & mechanisms - 1 Dec 2024

Saoudi Amel, Mitsogiannis Manuela D, Zarrouki Faouzi, Fergus Claire, Stojek Erwina, Talavera Silvia, Moore-Frederick Dervla, Kelly Vincent P, Goyenvalle Aurélie, Montanaro Federica, Muntoni Francesco, Prenderville Jack A, Sokolowska Ewa, Vaillend Cyrille

Abstract excerpt

The severity of brain comorbidities in Duchenne muscular dystrophy (DMD) depends on the mutation position within the DMD gene and differential loss of distinct brain dystrophin isoforms (i.e. Dp427, Dp140, Dp71). Comparative studies of DMD mouse models with different mutation profiles may help to understand this genotype-phenotype relationship. The aim of this study was (1) to compare the phenotypes due to Dp427...

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Source

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Identifiers

PMID: 39718030
DOI: 10.1242/dmm.050707
PMCID: PMC11698058

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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