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Article

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

Journal of neuromuscular diseases - 1 Jan 2023

van den Bersselaar Luuk R, van Alfen Nens, Kruijt Nick, Kamsteeg Erik-Jan, Fernandez-Garcia Miguel A, Treves Susan, Riazi Sheila, Yang Chu-Ya, Malagon Ignacio, van Eijk Lucas T, van Engelen Baziel G M, Scheffer Gert-Jan, Jungbluth Heinz, Snoeck Marc M J, Voermans Nicol C

Abstract excerpt

BACKGROUND: Variants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular conditions. Muscle imaging abnormalities have been demonstrated in isolated cases of patients with a history of RYR1-related malignant hyperthermia (MH) susceptibility. OBJECTIVE: To provide insights into the type and prevalence of muscle ultrasound abnormalities and muscle hypertrophy in...

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Source

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Identifiers

PMID: 37154182
DOI: 10.3233/JND-230018
PMCID: PMC10357171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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