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Article

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Human gene therapy - 1 Jul 2013

Rendu John, Brocard Julie, Denarier Eric, Monnier Nicole, Piétri-Rouxel France, Beley Cyriaque, Roux-Buisson Nathalie, Gilbert-Dussardier Brigitte, Perez Marie José, Romero Norma, Garcia Luis, Lunardi Joël, Fauré Julien, Fourest-Lieuvin Anne, Marty Isabelle

Abstract excerpt

Central core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We studied the pathological situation of a severely affected child with two recessive mutations, which resulted in a massive reduction in the amount of RyR1. The paternal mutation...

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Source

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Identifiers

PMID: 23805838
DOI: 10.1089/hum.2013.052
PMCID: PMC3719469

Genes

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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