Central core disease.
10.3346/jkms.1993.8.3.235
- Author:
Na Hye MYONG
1
;
Yeon Lim SUH
;
Je G CHI
;
Yong Seung HWANG
Author Information
1. Department of Pathology, Seoul National University, Korea.
- Publication Type:Case Reports
- Keywords:
Congeniatl myopathy;
Muscle;
Central core disease;
Ultrastructure
- MeSH:
Child, Preschool;
Female;
Humans;
Microscopy, Electron;
Muscles/pathology/ultrastructure;
Muscular Diseases/*congenital/*pathology
- From:Journal of Korean Medical Science
1993;8(3):235-240
- CountryRepublic of Korea
- Language:English
-
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.