Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …

The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment
to the plasmatic membrane. FLNC mutations have been associated with myofibrillar …

Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young
ages resulting in early heart transplantation. Familial forms are mainly caused by mutations …

Greenfield's Neuropathology, the world's leading neuropathology reference, provides a
comprehensive account of the pathological findings in neurological disease, their biological …

Filamins are essential, evolutionarily conserved, modular, multidomain, actin-binding
proteins that organize the actin cytoskeleton and maintain extracellular matrix connections …

Filamin C (FLNC) is one of three filamin proteins (Filamin A (FLNA), Filamin B (FLNB), and
FLNC) that cross-link actin filaments and interact with numerous binding partners. FLNC …

Mutations in the Tar DNA binding protein of 43 kDa (TDP-43; TARDBP) are associated with
amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43+ …

Objective: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular
diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a …

A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM)
patients, yet only 50% of these cases are associated with a known causative gene variant …