Central core disease

Tetsuji Santa, Andrew G Engel

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Two cases of central core disease and two cases of multicore disease were presented. They were noted to have slight motor retardation and their clinical courses were non progressive or very slowly progressive. Electromyography demonstrated myopathic abnormalities, however, serum enzyme levels except for one case were not increased. Histological examinations of the muscle biopsies revealed the presence of central “core” regions in most of muscle fibers in the formers. On the other hand, the biopsy findings of the latters showed multifocal myofibrillar degeneration like the core in the cen tral core disease. Target fibers in a muscle biopsy from a patient with peripheral neuropathy were examined by light and electron microscopy. In the histochemical and electron microscopic studies, the target and the central core region were morphologically indistinguishable, and the central core region and the cores in multicore disease showed uniform appearance. The relationships of the central core disease to the multicore disease and the target fiber were discussed. The pathogenesis of the cores remains unknown.

Original languageEnglish (US)
Pages (from-to)499-506
Number of pages8
JournalNo To Hattatsu
Volume5
Issue number6
DOIs
StatePublished - 1973

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Central Core Myopathy
Biopsy
Muscles
Electromyography
Peripheral Nervous System Diseases
Electron Microscopy
Electrons
Light
Enzymes
Serum
Minicore Myopathy with External Ophthalmoplegia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)
  • Clinical Neurology

Cite this

Central core disease. / Santa, Tetsuji; Engel, Andrew G.

In: No To Hattatsu, Vol. 5, No. 6, 1973, p. 499-506.

Research output: Contribution to journalArticle

Santa, Tetsuji ; Engel, Andrew G. / Central core disease. In: No To Hattatsu. 1973 ; Vol. 5, No. 6. pp. 499-506.
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