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Literature DB >> 7964921

Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.

L Bet¹, M Moggio, G P Comi, C Mariani, A Prelle, N Checcarelli, A Bordoni, N Bresolin, E Scarpini, G Scarlato.

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.

Entities: Disease Gene Species

Mesh：

Substances：
DNA, Mitochondrial

Year: 1994 PMID： 7964921 DOI： 10.1007/BF00919714

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

29 in total

Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.

1. LEBER'S DISEASE WITH SYMPTOMS RESEMBLING DISSEMINATED SCLEROSIS.

Review 2. Mitochondrial mutations in neuro-ophthalmological diseases. A review.

3. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

4. Rapid isolation of animal mitochondrial DNA by alkaline extraction.

5. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

6. Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis.

7. Sequence and organization of the human mitochondrial genome.

Review 8. Multiple sclerosis. Observations and reflections--a personal memoir.

9. Reversible alexia, mitochondrial myopathy, and lactic acidemia.

10. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

1. Adult onset Pompe disease associated with multiple sclerosis.

2. A rare case of multiple sclerosis and McArdle disease.

3. Stressed cybrids model demyelinated axons in multiple sclerosis.

Review 4. Is multiple sclerosis a mitochondrial disease?

5. Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report.