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mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
Pathology:
- multisystem disorder
- diffuse leukoencephalopathy
Genetics:
- autosomal recessive
- associated with defects in POLG, TYMP
- multiple deletions of mitochondrial DNA in skeletal muscle
Clinical manifestations:
- onset between the 2nd & 5th decades of life
- ptosis
- progressive external ophthalmoplegia
- gastrointestinal dysmotility (often pseudoobstruction)
- thin body habitus
- peripheral neuropathy
- myopathy
General
mitochondrial disease
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 603041
References
- UniProt :accession P54098
- OMIM :accession 603041