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Title: Mutation screening of the RYR1 gene in malignant hyperthermia: Detection of a novel Tyr to ser mutation in a pedigree with associated centrl cores

The ryanodine receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthermia (MH) predigrees. Missense mutations in this gene have also been identified in two families with central core disease (CCD), a rare myopathy closely associated with MH. In an effort to identify other RYR1 mutations responsible for MH and CCD, we used a SSCP approach to screen the RYR1 gene for mutations in a family exhibiting susceptibility to MH (MHS) where some of the MHS individuals display core regions in their muscle. Sequence analysis of a unique aberrant SSCP has allowed us to identify a point mutation cosegregating with MHS in the described family. The mutation changes a conserved tyrosine residue at position 522 to a serine residue. This mutation is positioned relatively close to five of the six MHS/CCD mutations known to date and provides further evidence that MHS/CCD mutations may cluster in the amino terminal region of the RYR1 protein.
Authors:
; ;  [1]
  1. University College, Cork (United Kingdom) [and others
Publication Date:
OSTI Identifier:
186091
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 23; Journal Issue: 1; Other Information: PBD: 1 Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; DNA SEQUENCING; DETECTION; SCREENING; HYPERTHERMIA; DISEASE INCIDENCE; RECEPTORS; PATIENTS; HEREDITARY DISEASES; GENETICS; AMINO ACIDS; DOMINANT MUTATIONS; PROTEINS; NUCLEOTIDES