A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

@inproceedings{Schirmer2018AND,
  title={A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy},
  author={Ilona Schirmer and Mareike Dieding and Baerbel Klauke and Andreas Brodehl and Anna Gaertner-Rommel and Volker Walhorn and Jan F. Gummert and Uwe Schulz and Lech J. Paluszkiewicz and Dario Anselmetti and Hendrik Milting},
  booktitle={Molecular genetics & genomic medicine},
  year={2018}
}
BACKGROUND DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. METHODS Using a next-generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in-frame indel mutation (DES-c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasian patient with cardiomyopathy in combination with atrioventricular block and skeletal myopathy. This indel mutation is located in the coding region of the first exon. Family anamnesis revealed a… CONTINUE READING
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