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Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study-
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- Authors
- Issue Date
- 1990-09
- Citation
- Seoul J Med, Vol.31 No.3, pp. 183-190
- Keywords
- Congenital myopathy ; Nemaline myopathy ; Dysmorphic features ; Rod body ; Muscle
- 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.
- ISSN
- 0582-6802
- Language
- English
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