Gene Panel Sequencing Identifies a Novel <i>RYR1</i> p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

Gene Panel Sequencing Identifies a Novel <i>RYR1</i> p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

Malignant hyperthermia (MH), a rare autosomal dominant pharmacogenetic disorder of skeletal muscle calcium regulation, is triggered by sevoflurane in susceptible individuals. We report a Korean having MH with multi-minicore myopathy functionally supported by RYR1-mediated intracellular Ca<sup>...

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Bibliographic Details
Main Authors: Young Jae Moon, Joonhong Park, Jung Ryul Kim, Seung Yeob Lee, Jaehyeon Lee, Yong Gon Cho, Dal Sik Kim
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Genes
Subjects:
<i>RYR1</i> variant
c.6898T > C
p.Ser2300Pro
malignant hyperthermia
multi-minicore myopathy
torticollis
Online Access:https://www.mdpi.com/2073-4425/13/10/1726

Internet

https://www.mdpi.com/2073-4425/13/10/1726

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