Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

  title={Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.},
  author={Enkhsaikhan Purevjav and Takuro Arimura and Sibylle Augustin and A Huby and Ken Takagi and Shinichi Nunoda and Debra L. Kearney and Michael D. Taylor and Fumio Terasaki and J. Martijn Bos and Steve R. Ommen and Hiroki Shibata and Megumi Takahashi and Manatsu Itoh-Satoh and William J. McKenna and Ross R T Murphy and Siegfried Labeit and Yoichi Yamanaka and Noboru Machida and J S Park and Peta M A Alexander and Robert G. Weintraub and Yasushi Kitaura and Michael J. Ackerman and Akinori Kimura and Jeffrey Allen Towbin},
  journal={Human molecular genetics},
  volume={21 9},
Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully understood. Myopalladin (MYPN) is a Z-disc protein expressed in striated muscle and functions as a structural, signaling and gene expression regulating molecule in response to muscle stress. MYPN was genetically screened in 900 patients with HCM, DCM and RCM, and disease-causing mechanisms were investigated using comparative… CONTINUE READING


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Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie • 2016
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