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Article

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Human molecular genetics - 1 Aug 2012

Gentil Christel, Leturcq France, Ben Yaou Rabah, Kaplan Jean-Claude, Laforet Pascal, Pénisson-Besnier Isabelle, Espil-Taris Caroline, Voit Thomas, Garcia Luis, Piétri-Rouxel France

Abstract excerpt

Duchenne and Becker muscular dystrophies (DMD and BMD) are muscle-wasting diseases caused by mutations in the DMD gene-encoding dystrophin. Usually, out-of-frame deletions give rise to DMD, whereas in-frame deletions result in BMD. BMD patients exhibit a less severe disease because an abnormal but functional dystrophin is produced. This is the rationale for attempts to correct the reading frame by using an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

Share to Nitric Oxide Synthase Type I

Share to Ryanodine Receptor Calcium Release Channel

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Source

Identifiers

PMID: 22589245
DOI: 10.1093/hmg/dds176

Genes

DMD
RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.PMID 22589245Read ↗

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