Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis
Related Experiment Video
Updated: Feb 19, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Wenhe Li1,2, Lin Zhang1, Yue Liang1
1Department of Forensic Medicine, Tongji Medical College of Huazhong University of Science and Technology, NO.13 Hangkong Road, Wuhan, 430030, People's Republic of China.
Abstract:
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 myoglobin casts were observed by microscopy. Ultrastructural changes in the skeletal muscles and the myocardium were detected by transmission electron microscopy (TEM). Genetic analysis disclosed a ryanodine receptor type 1 (RYR1) gene mutation and a nucleoide mutation in chromosome 19q (G1021A) in the deceased and his father. According to the fore mentioned results, the relationship between the cause of death and MH was confirmed. Thus, genetic analysis can be an important procedure in diagnosing MH.
Related Concept Videos
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Diversity of Archaea IV
Overview of Cell Death
Cell death was observed in the early 19th century, but there was no experimental evidence to prove it. In 1842, Carl Vogt first discovered cell death in a metamorphic toad; however, it was not termed ‘cell death.’ Scientists discovered different cell death pathways only in the...
Cardiomyopathy III: Hypertrophic Cardiomyopathy

