31 May 2026
: Case report 
Anesthesia Management in a Patient With a History of Fulminant Malignant Hyperthermia and a Homozygous RYR1 p.Arg530His Variant Undergoing Laparoscopic Surgery: A Case Report
Rare disease
Yuki Murao
AEF 1, Keiko Mukaida BCEFG 2, Hiroshi Kondo B 1, Yukiko Nao BC 1, Masaya Ueki B 1, Ken Hashimoto BC 1, Tsuyoshi Ikeda BCD 2, Hirotsugu Miyoshi BCD 2, Yasuo M. Tsutsumi DEF 2*
DOI: 10.12659/AJCR.953046
Am J Case Rep 2026; 27:e953046
Figure 1 Results of Sanger sequencingRepresentative electropherogram obtained by Sanger sequencing of RYR1 exon 15, showing the region encompassing codons 1581 to 1597. The reference sequence contained guanine (G) at nucleotide position 1589; however, in the proband, adenine (A) was detected at this position on both DNA strands, resulting in an amino acid substitution from arginine to histidine (p.Arg530His). The proband was homozygous for the RYR1 c.1589G>A (p.Arg530His) variant.