Article
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Journal of neurology - 1 Jun 2013
Løseth Sissel, Voermans Nicol C, Torbergsen Torberg, Lillis Sue, Jonsrud Christoffer, Lindal Sigurd, Kamsteeg Erik-Jan, Lammens Martin, Broman Marcus, Dekomien Gabriele, Maddison Paul, Muntoni Francesco, Sewry Caroline, Radunovic Aleksandar, de Visser Marianne, Straub Volker, van Engelen Baziel, Jungbluth Heinz
Abstract excerpt
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from various congenital myopathies to the malignant hyperthermia susceptibility (MHS) trait without any associated weakness. RYR1-related myopathies are usually of early-childhood onset. Here we present 11 patients from 8 families...
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