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Article

Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.

The Journal of biological chemistry - 25 May 2012

Acsadi Gyula, Moore Steven A, Chéron Angélique, Delalande Olivier, Bennett Lindsey, Kupsky William, El-Baba Mohammad, Le Rumeur Elisabeth, Hubert Jean-François

Abstract excerpt

Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish. Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this protein. We have identified two brothers (ages 8 and 10 years) with very mild proximal weakness, recurrent...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22453924
DOI: 10.1074/jbc.M111.284521
PMCID: PMC3365720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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