Population
104 families with malignant hyperthermia susceptibility (MHS)
Comparison
Genetic and diagnostic testing vs Heterozygous patients
Design
Cohort
Authors
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Consider multiple MHS alleles in family genetic testing; extends evidence of heterogeneity but remains hypothesis-generating for diagnostics.
More than one MHS allele can be present in MHS families, which should be considered when using genetics for diagnosis and evaluating genetic heterogeneity.
Monnier et al. (2002) studied this question.
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