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

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 …

Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …

Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare
disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower …

Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically
characterized by accumulation of protein aggregates and structural failure of muscle fibers …

The Nicoya OpenSPR is a benchtop surface plasmon resonance (SPR) instrument. As with
other optical biosensor instruments, it is suitable for the label-free interaction analysis of a …

Obscurin comprises a family of giant modular proteins that play key structural and regulatory
roles in striated muscles. Immunoglobulin domains 58/59 (Ig58/59) of obscurin mediate …

Obscurin is a giant muscle protein that connects the sarcomere with the sarcoplasmic
reticulum, and has poorly understood structural and signalling functions. Increasingly …

Background FLNC is one of the few genes associated with all types of cardiomyopathies, but
it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular …

In adult skeletal muscles, 2 junctophilin isoforms (JPH1 and JPH2) tether the sarcoplasmic
reticulum (SR) to transverse tubule (T-tubule) membranes, generating stable membrane …