Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: A mitochondrial multisystem disorder in search of a name
- 1 June 1994
- journal article
- case report
- Published by Wiley in Muscle & Nerve
- Vol. 17 (6) , 667-674
- https://doi.org/10.1002/mus.880170616
Abstract
This article describes a 37‐year‐old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high‐normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitocnondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions. © 1994 John Wiley & Sons, Inc.Keywords
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