Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Investigating the genetic susceptibility to exertional heat illness.

Journal of medical genetics - 1 Aug 2020

Gardner Lois, Miller Dorota M, Daly Catherine, Gupta Pawan K, House Carol, Roiz de Sa Daniel, Shaw Marie-Anne, Hopkins Philip M

Abstract excerpt

BACKGROUND: We aimed to identify rare (minor allele frequency ≤1%), potentially pathogenic non-synonymous variants in a well-characterised cohort with a clinical history of exertional heat illness (EHI) or exertional rhabdomyolysis (ER). The genetic link between malignant hyperthermia (MH) and EHI was investigated due to their phenotypic overlap. METHODS: The coding regions of 38 genes relating to skeletal muscle...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium Channels, L-Type
Share to Calcium Signaling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Homeostasis

Share to Muscle, Skeletal

Share to Rhabdomyolysis

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 32054689
DOI: 10.1136/jmedgenet-2019-106461

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigating the genetic susceptibility to exertional heat illness.PMID 32054689Read ↗

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.Semantic proximity Read ↗

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat IllnessSemantic proximity Read ↗

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility.Semantic proximity Read ↗

Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.Semantic proximity Read ↗

Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.Semantic proximity Read ↗

Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.Semantic proximity Read ↗

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Semantic proximity Read ↗

Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Is there a link between malignant hyperthermia and exertional heat illness?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.