Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

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 wit...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Mary Ann Liebert, Inc. 2013
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3719469/
https://ncbi.nlm.nih.gov/pubmed/23805838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hum.2013.052
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