SourceNeurology, 59, 6, (2002), pp. 926-9
Article / Letter to editor
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SubjectInborn errors of metabolism; Neuromuscular and neurometabolic disorders; Erfelijke stofwisselingsziekten; Neuromusculaire en neurometabole aandoeningen
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 neurogastrointestinal encephalomyopathy, except for the absence of leukoencephalopathy, and is likely caused by a nuclear DNA mutation that disrupts intergenomic signaling.
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