Classic and exertional heatstroke

A Bouchama, B Abuyassin, C Lehe, O Laitano… - Nature Reviews …, 2022 - nature.com
In the past two decades, record-breaking heatwaves have caused an increasing number of
heat-related deaths, including heatstroke, globally. Heatstroke is a heat illness characterized …

Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

H Jungbluth, S Treves, F Zorzato, A Sarkozy… - Nature Reviews …, 2018 - nature.com
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Rhabdomyolysis: review of the literature

R Zutt, AJ Van Der Kooi, GE Linthorst… - Neuromuscular …, 2014 - Elsevier
Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus
criteria for rhabdomyolysis is lacking, a reasonable definition is elevation of serum creatine …

Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists

PM Hopkins, T Girard, S Dalay, B Jenkins… - …, 2021 - Wiley Online Library
Malignant hyperthermia is defined in the International Classification of Diseases as a
progressive life‐threatening hyperthermic reaction occurring during general anaesthesia …

Diagnostic evaluation of rhabdomyolysis

JR Nance, AL Mammen - Muscle & nerve, 2015 - Wiley Online Library
Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain,
weakness, and/or swelling with release of myofiber contents into the bloodstream …

[HTML][HTML] Approach to the diagnosis of congenital myopathies

KN North, CH Wang, N Clarke, H Jungbluth… - Neuromuscular …, 2014 - Elsevier
Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each …

Malignant hyperthermia in the post-genomics era: new perspectives on an old concept

S Riazi, N Kraeva, PM Hopkins - Anesthesiology, 2018 - pmc.ncbi.nlm.nih.gov
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle triggered by
volatile anesthetics or succinylcholine. It manifests as a potentially lethal hypermetabolic …

European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

PM Hopkins, H Rüffert, MM Snoeck… - BJA: British Journal …, 2015 - academic.oup.com
It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for
the laboratory diagnosis of malignant hyperthermia susceptibility from the European …

[HTML][HTML] Ryanodine receptor dysfunction in human disorders

A Kushnir, B Wajsberg, AR Marks - … et Biophysica Acta (BBA)-Molecular Cell …, 2018 - Elsevier
Regulation of intracellular calcium (Ca 2+) is critical in all cell types. The ryanodine receptor
(RyR), an intracellular Ca 2+ release channel located on the sarco/endoplasmic reticulum …