Rhabdomyolysis, Recurrent (RHABDO2)
W
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Overview
From WUSTL Neuromuscular●ATPase++ Epidemiology: 14 patients, 3 families; Croatia, Hungary, Netherlands Genetics Mutation: Missense; R528Q Allelic disorders ATP2A2 protein Intracellular Ca++ homeostasis P-type cation pump Couple ATP hydrolysis with active Ca++ transport across membranes Maintain low cytosolic Ca++ concentrations Actively transporting Ca++ from cytosol into SR Excitation-contraction coupling Allow muscle relaxation & subsequent myofiber contraction Opposite function to RYR1 Mutation: Slower SR/ER Ca++ SERCA2-mediated reuptake Clinical Onset age: 3 to 60 years; Median 10 years Precipitants: Infection/Fe
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.