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

Ilona SchirmerMareike DiedingBärbel KlaukeAndreas BrodehlAnna Gaertner-RommelVolker WalhornJan GummertUwe SchulzLech PaluszkiewiczDario AnselmettiHendrik Milting

Published in: Molecular genetics & genomic medicine (2017)

Our study has relevance for the clinical and genetic interpretation of further DES indel mutations causing cardiac or skeletal myopathies and might be helpful for risk stratification.

Keyphrases

heart failure
early onset
genome wide
late onset
copy number
gene expression
dna methylation