Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases

L. Bet, M. Moggio, G. P. Comi, C. Mariani, A. Prelle, N. Checcarelli, A. Bordoni, N. Bresolin, E. Scarpini, G. Scarlato

Research output: Contribution to journalArticle

Abstract

A woman with definite multiple sclerosis (MS) and mitochondrial myopathy is described. There were widespread white matter lesions on magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) abnormalities and evoked response changes. Muscle biopsy showed ragged red fibres (RRFs) and cytochrome c oxidase (CoX) deficiency. Southern blot analysis revealed a large deletion of mitochondrial DNA (mtDNA). The patient may be affected by two unrelated diseases, MS and mitochondrial myopathy, but this combination has never previously been reported.

Original languageEnglish
Pages (from-to)511-516
Number of pages6
JournalJournal of Neurology
Volume241
Issue number8
DOIs
Publication statusPublished - Aug 1994

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Mitochondrial Myopathies
Multiple Sclerosis
Cytochrome-c Oxidase Deficiency
Southern Blotting
Mitochondrial DNA
Cerebrospinal Fluid
Magnetic Resonance Imaging
Biopsy
Muscles
White Matter

Keywords

  • Mitochondrial DNA (muscle)
  • Mitochondrial myopathy
  • Multiple sclerosis

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Bet, L., Moggio, M., Comi, G. P., Mariani, C., Prelle, A., Checcarelli, N., ... Scarlato, G. (1994). Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases. Journal of Neurology, 241(8), 511-516. https://doi.org/10.1007/BF00919714

Multiple sclerosis and mitochondrial myopathy : An unusual combination of diseases. / Bet, L.; Moggio, M.; Comi, G. P.; Mariani, C.; Prelle, A.; Checcarelli, N.; Bordoni, A.; Bresolin, N.; Scarpini, E.; Scarlato, G.

In: Journal of Neurology, Vol. 241, No. 8, 08.1994, p. 511-516.

Research output: Contribution to journalArticle

Bet, L, Moggio, M, Comi, GP, Mariani, C, Prelle, A, Checcarelli, N, Bordoni, A, Bresolin, N, Scarpini, E & Scarlato, G 1994, 'Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases', Journal of Neurology, vol. 241, no. 8, pp. 511-516. https://doi.org/10.1007/BF00919714
Bet, L. ; Moggio, M. ; Comi, G. P. ; Mariani, C. ; Prelle, A. ; Checcarelli, N. ; Bordoni, A. ; Bresolin, N. ; Scarpini, E. ; Scarlato, G. / Multiple sclerosis and mitochondrial myopathy : An unusual combination of diseases. In: Journal of Neurology. 1994 ; Vol. 241, No. 8. pp. 511-516.
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