title: [Preliminary report: first identification of known mutation in the ryanodine receptor gene in a Japanese malignant hyperthermia pedigree].
abstract: In Japan, the rate of Ca-induced Ca release (CICR) using skinned fibers of skeletal muscle has been employed as a diagnostic test for malignant hyperthermia (MH) susceptibility, since most of the typical fulminant MH patients showed an enhancement of CICR rate. Recently the Ca releasing channel responsible for the CICR was reported to be mainly the ryanodine binding Ca protein which was identified as the causative site of MH muscle according to recent genetic studies. Among patients with enhanced CICR rate, one point mutation for Arg 2434 His was recognized in a family. Although this site is related to the central core disease (CCD), this pathological change could not be observed in this patient. This is the first report describing a gene mutation in a MH family identified in Japan.
authors.affiliation: First Department of Anesthesiology, Toho University School of Medicine, Tokyo.
authors.forename: Y
authors.initials: Y
authors.lastname: Ichihara
authors.forename: J
authors.initials: J
authors.lastname: Sasaki
authors.forename: H
authors.initials: H
authors.lastname: Kikuchi
authors.forename: M
authors.initials: M
authors.lastname: Ozawa
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D044466:Asian People; D002648:Child; D006801:Humans; D007564:Japan; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel