Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3
Linsley JW, Hsu IU, Groom L, Yarotskyy V, Lavorato M, Horstick EJ, Linsley D, Wang W, Franzini-Armstrong C, Dirksen RT, Kuwada JY. Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 114: e228-e236. PMID: 28003463, PMCID: PMC5240691, DOI: 10.1073/pnas.1619238114.Peer-Reviewed Original ResearchConceptsEC couplingDihydropyridine receptorNative American myopathySarcoplasmic reticulumExcitation-contraction couplingSkeletal muscle contractionVoltage-sensing dihydropyridine receptorCaffeine-induced CaRyanodine receptor 1Receptor 1Muscle contractionInternal storesMuscle Ca2Muscle fibersSTAC3Luminal CaMyopathyTransverse tubule membranesTubule membranesCaffeine sensitivityHuman myopathiesCoupling apparatusHuman diseasesDynamic imagingCritical role