Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in
ASPSCR1 protein
central core disease
malignant hyperthermia
rhabdomyosarcoma
ryanodine receptor
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
27 06 2023
27 06 2023
Historique:
received:
26
05
2023
revised:
19
06
2023
accepted:
24
06
2023
medline:
31
7
2023
pubmed:
29
7
2023
entrez:
29
7
2023
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 37510264
pii: genes14071360
doi: 10.3390/genes14071360
pmc: PMC10378851
pii:
doi:
Substances chimiques
Ryanodine Receptor Calcium Release Channel
0
Transcription Factors
0
ASPSCR1 protein, human
0
Intracellular Signaling Peptides and Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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