Sequence variations in the RYR1 gene encoding the skeletal muscle sarcoplasmic reticulum calcium release channel are the cause of malignant hyperthermia susceptibility and of several myopathies. This article reviews the RYR1-related myopathies and their association with malignant hyperthermia susceptibility, a life-threatening anesthetic complication which is avoidable if anticipated pre-surgically. This is especially important for counseling and improving patient safety during anesthesia, in particular for asymptomatic relatives of patients with recessive RYR1-related myopathies.

RYR1-Related Myopathies and Anesthesiological Implications.

CARSANA, ANTONELLA
2014

Abstract

Sequence variations in the RYR1 gene encoding the skeletal muscle sarcoplasmic reticulum calcium release channel are the cause of malignant hyperthermia susceptibility and of several myopathies. This article reviews the RYR1-related myopathies and their association with malignant hyperthermia susceptibility, a life-threatening anesthetic complication which is avoidable if anticipated pre-surgically. This is especially important for counseling and improving patient safety during anesthesia, in particular for asymptomatic relatives of patients with recessive RYR1-related myopathies.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11588/599474
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