Ontology highlight
ABSTRACT:
SUBMITTER: Rossi D
PROVIDER: S-EPMC2598062 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Rossi Daniela D De Smet Patrick P Lyfenko Alla A Galli Lucia L Lorenzini Stefania S Franci Daniela D Petrioli Francesco F Orrico Alfredo A Angelini Corrado C Tegazzin Vincenzo V Dirksen Robert R Sorrentino Vincenzo V
Journal of medical genetics 20070201 2
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 presented with a prevalence of type 1 fibres with central cores, although none experienced c ...[more]