Ontology highlight
ABSTRACT:
SUBMITTER: Kraeva N
PROVIDER: S-EPMC3563839 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Kraeva Natalia N Zvaritch Elena E Rossi Ann E AE Goonasekera Sanjeewa A SA Zaid Hilal H Frodis Wanda W Kraev Alexander A Dirksen Robert T RT Maclennan David H DH Riazi Sheila S
Neuromuscular disorders : NMD 20121124 2
Central core disease, one of the most common congenital myopathies in humans, has been linked to mutations in the RYR1 gene encoding the Ca(2+) release channel of the sarcoplasmic reticulum (RyR1). Functional analyses showed that disease-associated RYR1 mutations led to impairment of skeletal muscle Ca(2+) homeostasis; however, thorough understanding of the molecular mechanisms underlying central core disease and other RyR1-related conditions is still lacking. We screened by sequencing the compl ...[more]