Genes, Vol. 14, Pages 1360: Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role

This report expands the spectrum of diseases associated with rhabdomyosarcomas and a possible differential diagnosis of soft tissue tumors in patients with RYR1 variants.

Source: Genes - June 27, 2023 Category: Genetics & Stem Cells 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 Tags: Article Source Type: research