Mitochondrial encephalomyoneuropathy. Case report
1995
: Mitochondrial myopathies and encephalomyopathies constitute a group of degenerative disorders characterized by a striking degree of clinical, biochemical and genetic heterogenity. We present a case of a 42-year old woman with clinical, electrophysiological and laboratory features of a mitochondrial encephalomyoneuropathy. A muscle biopsy specimen showed ragged-red fibres. Signs of demyelination and remyelination of a few fibers were observed in a sural nerve biopsy specimen. MR imaging revealed symmetrical multifocal white matter lesions predominantly in the parieto-occipital region. We stress the benefitial therapeutic effect of CoQ since it resulted in marked alleviation of some signs of the disease.
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