Objective Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and
genetic heterogeneity. To establish disease natural history, we performed a cross-sectional …

Nemaline myopathy, a disease of the actin-based thin filament, is one of the most frequent
congenital myopathies. To date, no specific therapy is available to treat muscle weakness in …

With the exception of infantile spinal muscular atrophy (SMA) and congenital myotonic
dystrophy 1 (DM1), congenital myopathies and muscular dystrophies with neonatal …

ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the
sarcomere. ACTA1 mutations are responsible of several muscle disorders including …

Congenital myopathies, such as nemaline myopathy, may present with hypotonia and
respiratory failure in the neonatal period. Respiratory function can be further compromised in …

Nemaline myopathy (NM) is one of the most common congenital myopathic conditions
worldwide: the estimated incidence is 1 in 50,000 live births. Patients suffering from NM …

Skeletal muscle is essential for life. Inside muscle fibers, filaments of actin and myosin slide
on each other to generate the mechanical forces that drive muscle contraction, movement …

Background Muscular dystrophies (MD) and myopathies are a distinct group of clinically and
genetically heterogeneous inherited muscle diseases. They cause muscle weakness often …