Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

How disease-associated mutations impair protein activities in the context of biological
networks remains mostly undetermined. Although a few renowned alleles are well …

Myofibrillar proteins exist as multiple isoforms that derive from multigene (isogene) families.
Additional isoforms, including products of tropomyosin, myosin light chain 1 fast, troponin T …

Contractile and energetic properties of human skeletal muscle have been studied for many
years in vivo in the body. It has been, however, difficult to identify the specific role of muscle …

▪ Abstract Striated muscle is an intricate, efficient, and precise machine that contains
complex interconnected cytoskeletal networks critical for its contractile activity. The …

Tropomyosins are rodlike coiled coil dimers that form continuous polymers along the major
groove of most actin filaments. In striated muscle, tropomyosin regulates the actin-myosin …

Tropomyosin (TM) is widely distributed in all cell types associated with actin as a fibrous
molecule composed of two α-helical chains arranged as a coiled-coil. It is localised …

The nemaline myopathies constitute a large proportion of the congenital or structural
myopathies. Common to all patients is muscle weakness and the presence in the muscle …

Muscle contraction results from the force generated between the thin filament protein actin
and the thick filament protein myosin, which causes the thick and thin muscle filaments to …