Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases

• DOI: 10.1007/bf00919714
• Publication Date: 2005-01-02T10:41:10Z
• Authors: L. Bet; M. Moggio; G. P. Comi; C. Mariani; A. Prelle; N. Checcarelli; A. Bordoni; N. Bresolin; E. Scarpini; G. Scarlato
• Keywords: 0301 basic medicine; Multiple Sclerosis; Biopsy; Mitochondrial Myopathies; Middle Aged; DNA, Mitochondrial; Magnetic Resonance Imaging; 3. Good health; Blotting, Southern; 03 medical and health sciences; Humans; Female; Muscle, Skeletal; Gene Deletion

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.