Article
Multiple mtDNA deletions with features of MNGIE.
Neurology - 24 Sept 2002
Vissing J, Ravn K, Danielsen E R, Dunø M, Wibrand F, Wevers R A, Schwartz M
Abstract excerpt
Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle complex I-IV activity, multiple mtDNA deletions, and depletion, but no thymidine phosphorylase (TP) or dNT-2 gene mutations. TP activity and brain MRI were normal. The condition resembles mitochondrial...
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