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Mitochondrial neurogastrointestinal encephalomyopathy.

Archives of Iranian medicine - 1 Nov 2009

Borhani Haghighi Afshin, Nabavizadeh Ali, Sass Jörn Oliver, Safari Anahid, Lankarani Kamran B

Abstract excerpt

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...

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PMID: 19877753

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