Centronuclear myopathy with unusual mitochondrial abnormalities

N. Canal, G. C. Comi, M. Comola, D. Testa, M. Mora, F. Cornelio

Research output: Contribution to journalArticle

Abstract

The case of a 34-years-old man is described with a progressive myopathy characterized by limb weakness and atrophy, involvement of facial, masticatory and extraocular muscles. The prominent features of the muscle biopsy were the presence of centrally located nuclei in most fibers. There was also an atrophy and predominance of type I fibers. Both clinical and morphological features were consistent with the diagnosis of centronuclear myopathy. Electron microscopic studies showed the presence of mitochondria with paracrystalline inclusions near the centralized nuclei but not in the subsarcolemmal position. This hitherto unreported feature led the authors to re-evaluate the hypothesis on the pathogenesis and the nosological classification of this myopathy.

Original languageEnglish
Pages (from-to)23-27
Number of pages5
JournalClinical Neuropathology
Volume4
Issue number1
Publication statusPublished - 1985

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Congenital Structural Myopathies
Muscular Diseases
Atrophy
Oculomotor Muscles
Facial Muscles
Masticatory Muscles
Mitochondria
Extremities
Electrons
Biopsy
Muscles

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Canal, N., Comi, G. C., Comola, M., Testa, D., Mora, M., & Cornelio, F. (1985). Centronuclear myopathy with unusual mitochondrial abnormalities. Clinical Neuropathology, 4(1), 23-27.

Centronuclear myopathy with unusual mitochondrial abnormalities. / Canal, N.; Comi, G. C.; Comola, M.; Testa, D.; Mora, M.; Cornelio, F.

In: Clinical Neuropathology, Vol. 4, No. 1, 1985, p. 23-27.

Research output: Contribution to journalArticle

Canal, N, Comi, GC, Comola, M, Testa, D, Mora, M & Cornelio, F 1985, 'Centronuclear myopathy with unusual mitochondrial abnormalities', Clinical Neuropathology, vol. 4, no. 1, pp. 23-27.
Canal, N. ; Comi, G. C. ; Comola, M. ; Testa, D. ; Mora, M. ; Cornelio, F. / Centronuclear myopathy with unusual mitochondrial abnormalities. In: Clinical Neuropathology. 1985 ; Vol. 4, No. 1. pp. 23-27.
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