Article
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
European journal of neurology - 1 Jul 2015
Snoeck M, van Engelen B G M, Küsters B, Lammens M, Meijer R, Molenaar J P F, Raaphorst J, Verschuuren-Bemelmans C C, Straathof C S M, Sie L T L, de Coo I F, van der Pol W L, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans N C, Kamsteeg E-J
Abstract excerpt
BACKGROUND AND PURPOSE: Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these studies have been limited to certain age groups, confined geographical regions or specific conditions. The aim of the present study was to investigate the full spectrum of RYR1-related disorders throughout life and...
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