The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Journal of Neurology
G J KnuimanNicol C Voermans

Abstract

The histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases. We performed a retrospective multi-centre cohort study focussing on the histopathological features of patients with MH or RM due to RYR1 mutations (1987-2017). All muscle biopsies were reviewed by a neuromuscular pathologist. Additional morphometric and electron microscopic analysis were performed where possible. Through the six participating centres we identified 50 patients from 46 families, including patients with MH (n = 31) and RM (n = 19). Overall, the biopsy of 90% of patients showed one or more myopathic features including: increased fibre size variability (n = 44), increase in the number of fibres with internal nuclei (n = 30), and type I fibre predominance (n = 13). Abnormalities on oxidative staining, generally considered to be more specifically associated with RYR1-related congenital myopathies, were observed in 52%, and included unevenness (n = 24), central cores (n = 7) and multi-minicores (n = 3). Apart from oxidative staining abnormalities more frequently observed in MH patients, the histopathological spectrum was similar between t...Continue Reading

References

Feb 1, 1988·British Journal of Anaesthesia·D G Harriman
Jun 1, 1984·Archives of Disease in Childhood·J Z HeckmattV Dubowitz
Oct 1, 1994·Human Molecular Genetics·K E KeatingJ J Heffron
Sep 1, 1993·Neuromuscular Disorders : NMD·D Figarella-BrangerJ F Pellissier
Dec 7, 2002·Neuromuscular Disorders : NMD·C A SewryR C M Quinlivan
Aug 19, 2006·Human Mutation·Rachel RobinsonPhilip Hopkins
Feb 5, 2009·Human Mutation·Soledad LevanoThierry Girard
Sep 19, 2009·Anesthesia and Analgesia·Werner KlinglerPhilip M Hopkins
Nov 26, 2009·Neuromuscular Disorders : NMD·Heinz JungbluthFrancesco Muntoni
Jun 29, 2010·Human Mutation·Nigel F ClarkeKathryn N North
Sep 15, 2010·Annals of Neurology·J M WilmshurstHeinz Jungbluth
Apr 26, 2011·Neuromuscular Disorders : NMD·James J DowlingHeinz Jungbluth
Jun 16, 2011·Muscle & Nerve·Sofia T DuarteTeresinha Evangelista
May 1, 2013·Neuromuscular Disorders : NMD·N DlaminiH Jungbluth
Jul 28, 2013·Canadian Journal of Anaesthesia = Journal Canadien D'anesthésie·David OrlovSheila Riazi
Aug 2, 2014·Internal Medicine Journal·J P MolenaarB G van Engelen
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 31, 2015·Journal of Cellular Physiology·Elizabeth CurtisElaine Dennison
May 2, 2015·Orphanet Journal of Rare Diseases·Renata Siciliani ScalcoRos Quinlivan
May 12, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M SnoeckE-J Kamsteeg

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Citations

May 28, 2020·International Journal of Molecular Sciences·George Konstantinos PapadimasConstantinos Papadopoulos
Aug 28, 2019·Journal of Clinical Neuromuscular Disease·David Lacomis
Aug 6, 2021·Current Pharmaceutical Design·Nick KruijtNicol Voermans

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Methods Mentioned

BETA
biopsies
biopsy
electron microscopy
light microscopy
exome sequencing

Software Mentioned

Excel

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