Article
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Acta neurologica Scandinavica - 1 May 2018
Witting N, Laforêt P, Voermans N C, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg E-J, Poulsen N S, Dahlqvist J R, Romero N B, Fauré J, Vissing J, Behin A
Abstract excerpt
OBJECTIVES: Rhabdomyolysis and myalgia are common conditions, and mutation in the ryanodine receptor 1 gene (RYR1) is suggested to be a common cause. Due to the large size of RYR1, however, sequencing has not been widely accessible before the recent advent of next-generation sequencing technology and limited phenotypic descriptions are therefore available. MATERIAL & METHODS: We present the medical history,...
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