Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 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 (RYR1) pathogenic variants. We described here an 18-year-old male who reported a cervical nodul...

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Detalles Bibliográficos
Autores principales: Andrade, Pamela V., Santos, Joilson M., Teixeira, Anne C. B., Sogari, Vanessa F., Almeida, Michelle S., Callegari, Fabiano M., Krepischi, Ana C. V., Oliveira, Acary S. B., Vainzof, Mariz, Silva, Helga C. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378851/
https://www.ncbi.nlm.nih.gov/pubmed/37510264
http://dx.doi.org/10.3390/genes14071360

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378851/
https://www.ncbi.nlm.nih.gov/pubmed/37510264
http://dx.doi.org/10.3390/genes14071360

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