The actin cytoskeleton plays key roles in every eukaryotic cell and is essential for cell
adhesion, migration, mechanosensing, and contractility in muscle and non-muscle tissues …

Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital
myopathies characterised by muscle weakness and specific skeletal muscle structural …

Filamentous actin (F-actin) is the major protein of muscle thin filaments, and actin
microfilaments are the main component of the eukaryotic cytoskeleton. Mutations in different …

Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each …

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

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 …

The genetic basis of most conditions characterized by congenital contractures is largely
unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene …

Objective: To assess the natural history of congenital myopathies (CMs) due to different
genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 …

The congenital myopathies are a group of inherited neuromuscular disorders mainly defined
on the basis of characteristic histopathological features. We analysed 66 patients assessed …

Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle
dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several …