Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

N Dlamini, NC (Nicol) Voermans, S Lillis, K Stewart, EJ Kamsteeg, G Drost, R Quinlivan, M Snoeck, F Norwood, A Radunbvic, V Straub, M Roberts, AFJE Vrancken, WL van der Pol, IFM Coo, AY Manzur, S Yau, S Abbs, A King, M LammensPM Hopkins, S Mohammed, S Treves, F Muntoni, E Wraige, MR Davis, B van Engelen, H Jungbluth

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Abstract

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 extensive investigations. We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys I 393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with M H. Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n
Original languageUndefined/Unknown
Pages (from-to)540-548
Number of pages9
JournalNeuromuscular Disorders
Volume23
Issue number7
DOIs
Publication statusPublished - 2013

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