Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene

•Individuals with a variant in the RYR1-gene should be tested for MHS with IVCT.•Patients with MHS can have few to no abnormalities on ancillary testing.•Sometimes the combination of 2 VUS are necessary to express the MHS-trait. Malignant hyperthermia is a life-threatening disorder, which can be pre...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2022-12, Vol.32 (11-12), p.864-869
Hauptverfasser:	Janssens, Lise, De Puydt, Joris, Milazzo, Mauro, Symoens, Sofie, De Bleecker, Jan L., Herdewyn, Sarah
Format:	Artikel
Sprache:	eng
Schlagworte:	Contracture - pathology Humans In vitro contracture test Malignant hyperthermia Malignant Hyperthermia - genetics Malignant Hyperthermia - pathology Muscle Contraction Muscle Cramp - pathology Muscle, Skeletal - pathology Myalgia - pathology Retrospective Studies Ryanodine Ryanodine receptor 1 Ryanodine Receptor Calcium Release Channel - genetics
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