Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study-

Abstract

We describe two cases of congenital nemaline myopathy presented with gait disturbance due to calcaneocavovalgus deformity. They showed characteristic dysmorphic features, i.e., an elongated face, antegraded chin, and high-arched palate. Both cases revealed delayed motor milestones and flaccid extremities. However, sensory modalities were normal. Intelligence was not retarded. Muscle biopsy showed characteristic findings of nemaline myopathy, i.e., variation in muscle fiber size, type I fiber predominance, distinct rod-shaped inclusions in phosphotungstic acid hematoxylin, and modified Gomori's stains. Ultrastructurally, the inclusions are confirmed as a Z-Iine-Iike threadbody.