Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.

@article{Mearini2014Mybpc3GT,
  title={Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.},
  author={Giulia Mearini and Doreen Stimpel and Birgit Geertz and Florian Weinberger and Elisabeth Kraemer and Saskia Schlossarek and Julia Mourot-Filiatre and Andrea Stoehr and Alexander Dutsch and Paul J. M. Wijnker and Ingke Braren and Hugo A. Katus and Oliver J M{\"u}ller and Thomas Voit and Thomas Eschenhagen and Lucie Carrier},
  journal={Nature communications},
  year={2014},
  volume={5},
  pages={5515}
}
Homozygous or compound heterozygous frameshift mutations in MYBPC3 encoding cardiac myosin-binding protein C (cMyBP-C) cause neonatal hypertrophic cardiomyopathy (HCM), which rapidly evolves into systolic heart failure and death within the first year of life. Here we show successful long-term Mybpc3 gene therapy in homozygous Mybpc3-targeted knock-in (KI) mice, which genetically mimic these human neonatal cardiomyopathies. A single systemic administration of adeno-associated virus (AAV9)-Mybpc3… CONTINUE READING
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Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

  • E Schaefer
  • Eur. J. Med. Genet
  • 2014

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