Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in <i>RYR1</i> and <i>ASPSCR1</i> May Play a Role

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in <i>RYR1</i> and <i>ASPSCR1</i> May Play a Role

Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not in patients with ryanodine receptor-1 gene (<i>RYR1</i>) pathogenic variants. We described here an 18-year-old male who report...

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Bibliographic Details
Main Authors: Pamela V. Andrade, Joilson M. Santos, Anne C. B. Teixeira, Vanessa F. Sogari, Michelle S. Almeida, Fabiano M. Callegari, Ana C. V. Krepischi, Acary S. B. Oliveira, Mariz Vainzof, Helga C. A. Silva
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
malignant hyperthermia
rhabdomyosarcoma
central core disease
ryanodine receptor
ASPSCR1 protein
Online Access:https://www.mdpi.com/2073-4425/14/7/1360

Internet

https://www.mdpi.com/2073-4425/14/7/1360

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