Accession Number:

AD1036716

Title:

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

Descriptive Note:

Technical Report

Corporate Author:

Uniformed Services University of the Health Sciences Bethesda United States

Personal Author(s):

Report Date:

2014-09-15

Pagination or Media Count:

203.0

Abstract:

Background Malignant hyperthermia susceptibility MHS is a life-threatening, inherited disorder of muscle calcium Casup 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.

Subject Categories:

  • Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE