Central core disease
Journal of Korean Medical Science
;
: 235-240, 1993.
Article
in English
| WPRIM
| ID: wpr-163284
ABSTRACT
Central core disease is a rare congenital myopathy characterized by the formation of cores that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Microscopy, Electron
/
Muscles
/
Muscular Diseases
Limits:
Child, preschool
/
Female
/
Humans
Language:
English
Journal:
Journal of Korean Medical Science
Year:
1993
Type:
Article
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