Ontology highlight
ABSTRACT:
SUBMITTER: Rendu J
PROVIDER: S-EPMC3719469 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Rendu John J Brocard Julie J Denarier Eric E Monnier Nicole N Piétri-Rouxel France F Beley Cyriaque C Roux-Buisson Nathalie N Gilbert-Dussardier Brigitte B Perez Marie José MJ Romero Norma N Garcia Luis L Lunardi Joël J Fauré Julien J Fourest-Lieuvin Anne A Marty Isabelle I
Human gene therapy 20130701 7
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 induced the inclusion of a new in-frame pseudo-exon in RyR1 mRNA that resulted in the inse ...[more]