@article{BorhaniHaghighiNabavizadehSassetal.2009,
  author    = {Afshin Borhani Haghighi and Ali Nabavizadeh and J{\"o}rn Oliver Sass and Anahid Safari and Kamran B. Lankarani},
  title     = {Mitochondrial neurogastrointestinal encephalomyopathy},
  series   = {Archives of Iranian Medicine},
  volume    = {12},
  number    = {6},
  issn      = {1029-2977},
  pages     = {588 -- 590},
  year      = {2009},
  abstract  = {Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase gene leads to mitochondrial genomic dysfunction. Herein, we report a 29-year-old Iranian man with abdominal pain, diarrhea, hearing loss, ophthalmoplegia, sensorimotor axonal neuropathy, and elevated muscle enzymes. Magnetic resonance imaging showed leukoencephalopathic changes. Metabolite analysis revealed a very high thymidine concentration in the patient's urine consistent with the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.},
  language  = {en}
}