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We report on the performance of whole-exome sequencing in members of a consanguineous family with a history of pediatric hypertrophic cardiomyopathy and sudden cardiac death, which led to the identification of a homozygous stop variant in the SLC22A5 gene, implicated in primary carnitine deficiency, as the likely genetic cause

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[DOI] [PubMed] [Google Scholar] 38.Derosa G., Maffioli P., Salvadeo S.A., Ferrari I., Gravina A., Mereu R., DAngelo A., Palumbo I., Randazzo S., Cicero A.F