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 language | Undefined/Unknown |
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Pages (from-to) | 540-548 |
Number of pages | 9 |
Journal | Neuromuscular Disorders |
Volume | 23 |
Issue number | 7 |
DOIs | |
Publication status | Published - 2013 |