J Korean Med Sci.  1993 Jun;8(3):235-240. 10.3346/jkms.1993.8.3.235.

Central core disease

• Myong NH
• Suh YL
• Chi JG
• Hwang YS

• KMID: 1421983
• DOI: http://doi.org/10.3346/jkms.1993.8.3.235

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.

Keyword

Congeniatl myopathy; Muscle; Central core disease; Ultrastructure

MeSH Terms

Child, Preschool
Female
Humans
Microscopy, Electron
Muscles/pathology/ultrastructure
Muscular Diseases/*congenital/*pathology