ACTA1 and nemaline myopathy: Taken together, the patients of our cohort presenting with severe ACTA1-related nemaline myopathy manifested major structural anomalies on the muscle biopsy specimens including a high frequency of cytoplasmic bodies and intranuclear rods, an unusual enlargement of the perinuclear space, and—in a single case—an aberrant architecture of the neuromuscular junction.