In 1956, Blankerhorn and Gall (1) proposed the term myocarditis for inflammatory heart
muscle disease, and myocardiosis for other heart muscle diseases. A year thereafter …

Most cardiomyopathies are familial diseases. Cascade family screening identifies
asymptomatic patients and family members with early traits of disease. The inheritance is …

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin,
cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament …

The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …

Skeletal muscle and the nervous system depend on efficient protein quality control, and they
express chaperones and cochaperones at high levels to maintain protein homeostasis …

Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin‐positive
protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and …

Skeletal muscle plays essential roles in motor function, energy, and glucose metabolism.
Skeletal muscle formation occurs through a process called myogenesis, in which a crucial …

Filamin c (FLNc) is a large dimeric actin-binding protein located at premyofibrils, myofibrillar
Z-discs and myofibrillar attachment sites of striated muscle cells, where it is involved in …

Mutations in the CRYAB gene, encoding alpha-B crystallin, cause distinct clinical
phenotypes including isolated posterior polar cataract, myofibrillar myopathy …

Mutations in the co-chaperone Bcl2-associated athanogene 3 (BAG3) can cause myofibrillar
myopathy (MFM), a childhood-onset progressive muscle disease, characterized by the …