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Article

Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report.

The American journal of case reports - 16 Sept 2021

Hooshmand Sara Jasmin, Govindarajan Raghav, Bostick Brian P

Abstract excerpt

BACKGROUND Filamin C (FLNC) is an actin crosslinking protein that provides structural support for the sarcomere. The exact function of FLNC is unknown; however, mutations have been reported in myopathies and cardiomyopathies, but rarely both. In this paper, we describe a case of adult-onset camptocormia, proximal myopathy, and cardiomyopathy and an intronic FLNC mutation. CASE REPORT A 56-year-old man was...

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Identifiers

PMID: 34526477
DOI: 10.12659/AJCR.932648
PMCID: PMC8455110

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