mitochondrial neurogastrointestinal encephalomyopathy

A rare, progressive autosomal recessive multisystem disorder (OMIM:603041) with an onset between the 2nd and 5th decades of life.
Findings
• Neurologic changes—diffuse leukoencephalopathy, polyneuropathy, progressive external ophthalmoplegia, ptosis, hearing loss (in descending order of occurrence).
• GI tract dysmotility—Chronic intestinal pseudo-obstruction (CIPO), small bowel diverticula, cachexia.
• Mitochondrial cytopathy in smooth muscle cells of the GI tract.

Molecular pathology
Caused by mutations of thymidine phosphorylase (TYMP) (OMIM:131222), DNA polymerase gamma (POLG) (OMIM:174763), and gene RRM2B.

单词	mitochondrial neurogastrointestinal encephalomyopathy
释义	mitochondrial neurogastrointestinal encephalomyopathy mitochondrial neurogastrointestinal encephalomyopathy A rare, progressive autosomal recessive multisystem disorder (OMIM:603041) with an onset between the 2nd and 5th decades of life. Findings • Neurologic changes—diffuse leukoencephalopathy, polyneuropathy, progressive external ophthalmoplegia, ptosis, hearing loss (in descending order of occurrence). • GI tract dysmotility—Chronic intestinal pseudo-obstruction (CIPO), small bowel diverticula, cachexia. • Mitochondrial cytopathy in smooth muscle cells of the GI tract. Molecular pathology Caused by mutations of thymidine phosphorylase (TYMP) (OMIM:131222), DNA polymerase gamma (POLG) (OMIM:174763), and gene RRM2B.
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