Desmin-related myopathy.

  title={Desmin-related myopathy.},
  author={Karin Y. van Spaendonck-Zwarts and Lotte van Hessem and Jan J D H Jongbloed and Hermien E K De Walle and Yassemi Capetanaki and Anneke Jelly van der Kooi and Irene Marijke Van Langen and Maarten P. van den Berg and J Peter van Tintelen},
  journal={Clinical genetics},
  volume={80 4},
Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta-analysis of reported DES mutation carriers, focusing on their clinical characteristics and potential genotype-phenotype correlations. Meta-analysis: DES mutation carriers (n = 159) with 40… CONTINUE READING


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