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

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.