The Classification And Functional Characterization Of RYR1 Sequence Variants Associated With Malignant Hyperthermia Susceptibility Identified Through Exome Sequencing

Abstract

Background: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of muscle calcium (Ca<sup 2+>) metabolism, triggered by anesthetics and depolarizing muscle relaxants. An unselected cohort of 870 ClinSeq participants were screened for MHS mutations using exome sequencing to identify putative pathogenic MHS variants in the RYR1 and CACNA1S genes.

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Document Details

Document Type
Technical Report
Publication Date
Sep 15, 2014
Accession Number
AD1036716

Entities

People

  • Stephen G. Gonsalves

Organizations

  • Uniformed Services University of the Health Sciences

Tags

DTIC Thesaurus Topics

  • Cardiac Arrhythmias
  • Chemical Synthesis
  • Chemistry
  • Connective Tissue Diseases
  • Genetics
  • Health Services
  • Medical Personnel
  • Muscular Diseases
  • Skeletal Muscle

Fields of Study

  • Biology

Readers

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  • Molecular and genetic basis of cancer.