Development is a complex process that occurs throughout the life cycle. F-actin, a major
component of the cytoskeleton, is essential for the morphogenesis of tissues and organs …

In this review, we focus on congenital myopathies, which are a genetically heterogeneous
group of hereditary muscle diseases with slow or minimal progression. They are mainly …

ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament
of the sarcomere. Mutations in ACTA1 are responsible for approximately 30% of nemaline …

Contraction of the human sarcomere is the result of interactions between myosin cross-
bridges and actin filaments. Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 …

Background: Congenital myopathies are rare neuromuscular disorders presenting with a
wide spectrum of clinical features, including long bone fractures (LBFs) that negatively …

Nemaline myopathies (NM) are a group of congenital myopathies that lead to muscle
weakness and dysfunction. While 13 genes have been identified to cause NM, over 50% of …

Discussion Electron microscopy of the vastus lateralis muscle biopsy identified nemaline
rods within several muscle fibers (Figure 2). A diagnosis was made of sporadic late-onset …