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Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study-

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Authors
Park, Sung Hye; Chi, Je Geun; Hwang, Yong Seung
Issue Date
1990-09
Publisher
Seoul National University College of Medicine
Citation
Seoul J Med 1990;31(3):183-190
Keywords
Congenital myopathyNemaline myopathyDysmorphic featuresRod bodyMuscle
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
URI
http://hdl.handle.net/10371/7316
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Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)The Seoul Journal of MedicineThe Seoul Journal of Medicine Vol. 31 No.3 (1990)
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