title: Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome.
abstract: We studied the clinical, histopathologic, neuroradiologic, biochemical, and genetic profile of a patient with the myo-neuro-gastrointestinal encephalopathy syndrome, a recently described multisystem mitochondriopathy characterized by blepharoptosis and ophthalmoparesis. The patient had severe intestinal pseudo-obstruction and a mixed demyelinating and axonal neuropathy. Abnormal collections of mitochondria in nerve and muscle as well as diffuse white matter disease were present. Cytochrome oxidase activity in muscle mitochondria was reduced. No mitochondrial DNA deletions were detected.
authors.affiliation: Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD 21205.
authors.forename: A B
authors.initials: AB
authors.lastname: Threlkeld
authors.forename: N R
authors.initials: NR
authors.lastname: Miller
authors.forename: K C
authors.initials: KC
authors.lastname: Golnik
authors.forename: J W
authors.initials: JW
authors.lastname: Griffin
authors.forename: R W
authors.initials: RW
authors.lastname: Kuncl
authors.forename: D R
authors.initials: DR
authors.lastname: Johns
authors.forename: M
authors.initials: M
authors.lastname: Lehar
authors.forename: O
authors.initials: O
authors.lastname: Hurko
mesh_terms: D000328:Adult; D001369:Axons / Q000648:ultrastructure; D001763:Blepharoptosis / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics / Q000473:pathology*; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000235:genetics / Q000473:pathology*; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial