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Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.

Abstract
Malignant hyperthermia susceptibility is a rare pharmacogenic disorder of skeletal muscle calcium regulation caused by mutations in the skeletal muscle ryanodine receptor 1 gene (RYR1). It is important to identify children who are candidates for ophthalmic surgery who might harbor RYR1 mutations because intraoperative malignant hyperthermia is potentially lethal. We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations.
AuthorsAmani AlBakri, Mohammad Karaoui, Fowzan S Alkuraya, Arif O Khan
JournalJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 19 Issue 6 Pg. 577-9 (Dec 2015) ISSN: 1528-3933 [Electronic] United States
PMID26691049 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
Chemical References
  • Ryanodine Receptor Calcium Release Channel
Topics
  • Blepharoptosis (congenital, genetics)
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Malignant Hyperthermia (diagnosis, genetics)
  • Mutation
  • Radiography
  • Ryanodine Receptor Calcium Release Channel (genetics)
  • Sacrum (abnormalities)
  • Scoliosis (diagnostic imaging, genetics)
  • Siblings

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