Calmodulin, sudden death, and the Folbigg case: genes in court

Peter J Schwartz*, Lia Crotti, Mette Nyegaard, Michael Toft Overgaard

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Following the sudden death of her four infant children, Kathleen Folbigg was sentenced to 40 years in prison largely on the basis of sir Roy Meadow’s axiom. The discovery of the CALM2-G114R variant in the mother and in her two dead daughters prompted a series of laboratory studies which, together with the critical information on the genotype–phenotype correlation of patients with calmodulinopathies provided by the International Calmodulinopathy Registry, led to a reversal of the initial sentence and to her release after 20 years in prison.
Original languageEnglish
JournalEuropean Heart Journal
ISSN0195-668X
DOIs
Publication statusE-pub ahead of print - 9 Apr 2024

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