A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
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DOI: 10.1016/j.bja.2020.07.042
Abstract: BACKGROUND Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine-halothane contracture testing. Through a multi-dimensional approach, we describe the implications of discordance… read more here.
Keywords: susceptibility; variant; multi dimensional; malignant hyperthermia ... See more keywords
Genomic Screening for Malignant Hyperthermia Susceptibility
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DOI: 10.1097/aln.0000000000003547
Abstract: It is timely to consider the utility and practicability of screening for malignant hyperthermia susceptibility using genomic testing. Here the authors pose a simple, but bold question: what would it take to end deaths from… read more here.
Keywords: screening malignant; malignant hyperthermia; hyperthermia; genomic screening ... See more keywords
Don’t stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility
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DOI: 10.1186/s12871-019-0909-1
Abstract: BackgroundWe aim to describe the evaluation and management of a patient with the uncommon combination of both mitochondrial myopathy and possible malignant hyperthermia susceptibility as an important source of information and as a valuable example… read more here.
Keywords: hyperthermia susceptibility; mitochondrial myopathy; myopathy possible; malignant hyperthermia ... See more keywords