Article
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
European journal of human genetics : EJHG - 1 Jul 2015
Wessels Marja W, Herkert Johanna C, Frohn-Mulder Ingrid M, Dalinghaus Michiel, van den Wijngaard Arthur, de Krijger Ronald R, Michels Michelle, de Coo Irenaeus Fm, Hoedemaekers Yvonne M, Dooijes Dennis
Abstract excerpt
Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We...
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