Gene Panel Sequencing Identifies a Novel RYR1 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(2+) releas...

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Detalles Bibliográficos
Autores principales: Moon, Young Jae, Park, Joonhong, Kim, Jung Ryul, Lee, Seung Yeob, Lee, Jaehyeon, Cho, Yong Gon, Kim, Dal Sik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601532/
https://www.ncbi.nlm.nih.gov/pubmed/36292611
http://dx.doi.org/10.3390/genes13101726

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601532/
https://www.ncbi.nlm.nih.gov/pubmed/36292611
http://dx.doi.org/10.3390/genes13101726

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