Central core disease
Journal of Korean Medical Science
;
: 235-240, 1993.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Microscopie électronique
/
Muscles
/
Maladies musculaires
Limites du sujet:
Enfant d'âge préscolaire
/
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
1993
Type:
Article
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