Multiple mtDNA deletions with features of MNGIE.
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.
Vissing
J
J
Department of Neurology and the Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark. vissing@rh.dk
Ravn
K
K
Danielsen
E R
ER
Dunø
M
M
Wibrand
F
F
Wevers
R A
RA
Schwartz
M
M
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
D004272:DNA, Mitochondrial