Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
09 02 2021
09 02 2021
Historique:
received:
12
01
2020
accepted:
29
12
2020
entrez:
10
2
2021
pubmed:
11
2
2021
medline:
12
11
2021
Statut:
epublish
Résumé
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, hyperkalemia and severe metabolic acidosis. The underlying mechanism of MH involves excessive Ca
Identifiants
pubmed: 33564012
doi: 10.1038/s41598-021-82024-7
pii: 10.1038/s41598-021-82024-7
pmc: PMC7873245
doi:
Substances chimiques
CACNA1S protein, human
0
Calcium Channels, L-Type
0
RYR1 protein, human
0
Ryanodine Receptor Calcium Release Channel
0
Types de publication
Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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