March 1, 1997Anesthesiology

Identification of Heterozygous and Homozygous Individuals with the Novel RYR1 Mutation Cys35Arg in a Large Kindred

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Population

18 members of a large pedigree with malignant hyperthermia susceptibility, including a proband and sibling…

Design

Other

Authors

PLPatrick J. LynchTulane University RKR Krivosic-HorberHôpital Roger Salengro HRH. ReyfordAix-Marseille Université

Discussion

Member takes

Implication

May inform targeted RYR1 testing in MH families; leaves open broader screening utility pending validation.

Structured PICO

Population

18 members of a large pedigree with malignant hyperthermia susceptibility (MHS), including a proband and sibling who are homozygous for the affected RYR1 allele.

Intervention

Clinical examination, caffeine halothane contracture test, histo-enzymologic study on muscle biopsies, and genetic linkage analysis/DNA sequencing.

Outcome

Identification of the genetic mutation responsible for malignant hyperthermia susceptibility in the kindred.surrogate

Identifies a novel RYR1 mutation (Cys35Arg) associated with malignant hyperthermia susceptibility and describes the first reported homozygote to present with an MH episode.

Cite This Study

Lynch et al. (1997) studied this question.

synapsesocial.com/papers/6a8c06dc29efb9ec64c46216 https://doi.org/10.1097/00000542-199703000-00014

View Full Paper

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Identification of Heterozygous and Homozygous Individuals with the Novel RYR1 Mutation Cys35Arg in a Large Kindred

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Identification of Heterozygous and Homozygous Individuals with the Novel RYR1 Mutation Cys35Arg in a Large Kindred

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider