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Article

Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Dec 2017

Tucker Nathan R, McLellan Micheal A, Hu Dongjian, Ye Jiangchuan, Parsons Victoria A, Mills Robert W, Clauss Sebastian, Dolmatova Elena, Shea Marisa A, Milan David J, Scott Nandita S, Lindsay Mark, Lubitz Steven A, Domian Ibrahim J, Stone James R, Lin Honghuang, Ellinor Patrick T

Abstract excerpt

BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes. METHODS AND RESULTS: We evaluated 8 family members across 4 generations by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29212899
DOI: 10.1161/CIRCGENETICS.117.001780
PMCID: PMC5802346

Genes

FLNC

Variants

Provenance

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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