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Information Journal Paper

Title

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Pages

  588-590

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.

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    APA: Copy

    BORHANI HAGHIGHI, A., NABAVIZADEH, A., SASS, J.O., SAFARI, ANAHID, & BAGHERI LANKARANI, KAMRAN. (2009). MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY. ARCHIVES OF IRANIAN MEDICINE, 12(6), 588-590. SID. https://sid.ir/paper/280516/en

    Vancouver: Copy

    BORHANI HAGHIGHI A., NABAVIZADEH A., SASS J.O., SAFARI ANAHID, BAGHERI LANKARANI KAMRAN. MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2009;12(6):588-590. Available from: https://sid.ir/paper/280516/en

    IEEE: Copy

    A. BORHANI HAGHIGHI, A. NABAVIZADEH, J.O. SASS, ANAHID SAFARI, and KAMRAN BAGHERI LANKARANI, “MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY,” ARCHIVES OF IRANIAN MEDICINE, vol. 12, no. 6, pp. 588–590, 2009, [Online]. Available: https://sid.ir/paper/280516/en

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