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 …

Nemaline myopathies are a heterogenous group of congenital myopathies caused by de
novo, dominantly or recessively inherited mutations in at least twelve genes. The genes …

The major function of vascular smooth muscle cells (SMCs) is contraction to regulate blood
pressure and flow. SMC contractile force requires cyclic interactions between SMC α-actin …

The ACTA1 gene encodes skeletal muscle α‐actin, which is the predominant actin isoform in
the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for …

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction
and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic …

Mutations play a crucial role in evolution as they provide the genetic variation that allows
evolutionary change. Although some mutations in regulatory elements or coding regions can …

Actin has maintained an exquisite degree of sequence conservation over large evolutionary
distances for reasons that are not understood. The desire to explain phenomena from …

Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders
named after the Greek word for thread, nema. The diagnosis is based on muscle weakness …

ABSTRACT A mutation update on the nebulin gene (NEB) is necessary because of recent
developments in analysis methodology, the identification of increasing numbers and novel …

Congenital myopathies are a clinically and genetically heterogeneous group of conditions
that most commonly present at or around the time of birth with hypotonia, muscle weakness …