myoneurogastrointestinal encephalomyopathy

(redirected from mitochondrial DNA depletion syndrome type 1)

myoneurogastrointestinal encephalomyopathy

A multisystem disorder (OMIM:603041) caused by mitochondrial dysfunction with an onset between the second and fifth decades of life. MNGIE is characterised by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudo-obstruction), diffuse leukoencephalopathy, thin body habitus, peripheral neuropathy, and myopathy.

Molecular pathology
Defects in TYMP, which encodes thymidine phosphorylase, cause mitochondrial neurogastrointestinal encephalomyopathy.
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