This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726912 | PMC |
| http://dx.doi.org/10.1097/ALN.0000000000001878 | DOI Listing |
Publication Analysis
Top Keywords
malignant hyperthermia
16
malignant
4
hyperthermia post-genomics
4
post-genomics era
4
era perspectives
4
perspectives concept
4
concept article
4
article reviews
4
reviews advancements
4
advancements genetics
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!