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October 1, 1999Human Molecular GeneticsOpen Access

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test

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Population

105 malignant hyperthermia families, including 10 central core disease families phenotyped by the in vitro…

Design

Cross-sectional

Authors

ABAgnieszka BrandtGdańsk Medical University

Discussion

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Implication

RYR1 screening may support MH diagnosis; leaves open prospective validation before replacing IVCT in practice.

Structured PICO

P
Population
105 malignant hyperthermia (MH) families, including 10 central core disease (CCD) families phenotyped by the in vitro contracture test (IVCT).
I
Intervention
Genetic screening for 21 known RYR1 mutations and the transmembraneous region of RYR1.
O
Outcome
Distribution of RYR1 mutations and concordance (cosegregation) between genetic results and in vitro contracture test (IVCT) phenotypes.surrogate

Genetic screening of RYR1 in malignant hyperthermia families identifies novel mutations and shows high concordance with the in vitro contracture test, supporting its diagnostic utility.

Cite This Study

Agnieszka Brandt (1999) studied this question.

synapsesocial.com/papers/6a70345d26a7f98052dcb58ahttps://doi.org/10.1093/hmg/8.11.2055
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies1994 · 112 citations
  2. 2Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle1997 · 85 citations
  3. 3Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.1998 · 101 citations
  4. 4RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility1996 · 12 citations