congenital nervous system disorder neuromuscular disease caused by qualitative or quantitative defects of tropomyosin congenital myopathy TPM2-related myopathy GARD:0026079 A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. congenital myopathy related to TPM2 TPM2-related myopathy TPM2 myopathy autosomal dominant TPM2-related myopathy MONDO:0100196 hereditary neurological disease