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

doi:10.1093/hmg/dds022

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Article

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

Human molecular genetics - 1 May 2012

Purevjav Enkhsaikhan, Arimura Takuro, Augustin Sibylle, Huby Anne-Cecile, Takagi Ken, Nunoda Shinichi, Kearney Debra L, Taylor Michael D, Terasaki Fumio, Bos Johan M, Ommen Steve R, Shibata Hiroki, Takahashi Megumi, Itoh-Satoh Manatsu, McKenna William J, Murphy Ross T, Labeit Siegfried, Yamanaka Yoichi, Machida Noboru, Park Jeong-Euy, Alexander Peta M A, Weintraub Robert G, Kitaura Yasushi, Ackerman Michael J, Kimura Akinori, Towbin Jeffrey A

Abstract excerpt

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...

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Identifiers

PMID: 22286171
DOI: 10.1093/hmg/dds022
PMCID: PMC3315208

Genes

MYPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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