Article
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
Neuromuscular disorders : NMD - 1 Jul 2013
Dlamini N, Voermans N C, Lillis S, Stewart K, Kamsteeg E-J, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken A F J E, van der Pol W L, de Coo R I F M, Manzur A Y, Yau S, Abbs S, King A, Lammens M, Hopkins P M, Mohammed S, Treves S, Muntoni F, Wraige E, Davis M R, van Engelen B, Jungbluth H
Abstract excerpt
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite...
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