title: Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.
abstract: This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions.
authors.affiliation: Center for Neuromuscular Diseases, University of Chieti, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Uncini
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: G
authors.initials: G
authors.lastname: Manfredi
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
authors.forename: A
authors.initials: A
authors.lastname: Di Muzio
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: M
authors.initials: M
authors.lastname: Mirabella
authors.forename: S
authors.initials: S
authors.lastname: Di Mauro
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D003711:Demyelinating Diseases / Q000150:complications; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications; D017353:Gene Deletion; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009135:Muscular Diseases / Q000150:complications; D009886:Ophthalmoplegia / Q000150:complications; D009626:Terminology as Topic
chemical_list: D004272:DNA, Mitochondrial