title: Multiple mtDNA deletions with features of MNGIE.
abstract: 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.
authors.affiliation: Department of Neurology and the Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark. vissing@rh.dk
authors.forename: J
authors.initials: J
authors.lastname: Vissing
authors.forename: K
authors.initials: K
authors.lastname: Ravn
authors.forename: E R
authors.initials: ER
authors.lastname: Danielsen
authors.forename: M
authors.initials: M
authors.lastname: Dunø
authors.forename: F
authors.initials: F
authors.lastname: Wibrand
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics*; D018482:Muscle, Skeletal / Q000201:enzymology; D010375:Pedigree; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial