Article
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.
Journal of medical genetics - 1 Feb 2007
Rossi Daniela, De Smet Patrick, Lyfenko Alla, Galli Lucia, Lorenzini Stefania, Franci Daniela, Petrioli Francesco, Orrico Alfredo, Angelini Corrado, Tegazzin Vincenzo, Dirksen Robert, Sorrentino Vincenzo
Abstract excerpt
A novel single-nucleotide deletion in exon 100 of the RYR1 gene, corresponding to deletion of nucleotide 14,510 in the human RyR1 mRNA (c14510delA), was identified in a man with malignant hyperthermia and in his two daughters who were normal for malignant hyperthermia. This deletion results in a RyR1 protein lacking the last 202 amino acid residues. All three subjects heterozygotic for the mutated allele...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.