congenital nervous system disorder qualitative or quantitative protein defects in neuromuscular diseases congenital myopathy alpha-actinopathy https://github.com/monarch-initiative/mondo/issues/900 alpha-actinopathy actinopathy GARD:0026038 actin myopathy A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. ACTA1 disease alpha actinopathy MONDO:0100084 hereditary neurological disease