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Article

Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.

Journal of the American College of Cardiology - 26 Oct 2010

Purevjav Enkhsaikhan, Varela Jaquelin, Morgado Micaela, Kearney Debra L, Li Hua, Taylor Michael D, Arimura Takuro, Moncman Carole L, McKenna William, Murphy Ross T, Labeit Siegfried, Vatta Matteo, Bowles Neil E, Kimura Akinori, Boriek Aladin M, Towbin Jeffrey A

Abstract excerpt

OBJECTIVES: Four variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial fibroelastosis. We sought to determine if these mutations are cardiomyopathy causing. BACKGROUND: Nebulette aligns thin filaments and connects them with the myocardial Z-disk, playing a role in mechanosensation. METHODS: We generated transgenic mice with...

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Identifiers

PMID: 20951326
DOI: 10.1016/j.jacc.2010.05.045
PMCID: PMC2957670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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