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

Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.

Forensic science, medicine, and pathology - 1 Dec 2017

Li Wenhe, Zhang Lin, Liang Yue, Tong Fang, Zhou Yiwu

Abstract excerpt

Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium homeostasis in skeletal muscles in response to triggering agents. Autopsy, morphology, and genetic analysis were performed on a 19-year-old man who died rapidly after exposure to sevoflurane during maxillofacial surgery. Muscle spasm around the operation area and limb rigidity occurred and renal tubules full of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Anesthetics, Inhalation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden

Share to Genetic Testing

Share to Malignant Hyperthermia

Share to Microscopy, Electron, Transmission

Share to Ryanodine Receptor Calcium Release Channel

Share to Young Adult

Source

Identifiers

PMID: 29101530
DOI: 10.1007/s12024-017-9925-y

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.PMID 29101530Read ↗

Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene.Semantic proximity Read ↗

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Semantic proximity Read ↗

Malignant hyperthermia.Semantic proximity Read ↗

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.Semantic proximity Read ↗

[Malignant hyperthermia. The ugly].Semantic proximity Read ↗

Malignant Hyperthermia: A Killer If Ignored.Semantic proximity Read ↗

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.Semantic proximity Read ↗

Ryanodine receptors and their role in genetic diseases (review).Semantic proximity Read ↗

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.Semantic proximity Read ↗

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.Semantic proximity Read ↗

Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.Semantic proximity Read ↗

Malignant hyperthermia: a pharmacogenetic disorder.Semantic proximity Read ↗

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