Beyond histologically defined nemaline myopathy, pathogenic variants in NEB may lead to additional clinical manifestations, including core-rod myopathy, distal nebulin myopathy without nemaline rods, lethal multiple pterygium syndrome, and a dominant form of distal nemaline/cap myopathy [6,7]. The gene discussed is NEB; the disease is nebulin-related early-onset distal myopathy.