title: Mitochondrial disorder with a common 4977-bp deletion presenting as a novel multisystem neurodegenerative disorder.
authors.forename: H
authors.initials: H
authors.lastname: Lane
authors.forename: N
authors.initials: N
authors.lastname: Bermingham
authors.forename: M A
authors.initials: MA
authors.lastname: Farrell
authors.forename: J
authors.initials: J
authors.lastname: Redmond
authors.forename: S
authors.initials: S
authors.lastname: Connolly
authors.forename: F M
authors.initials: FM
authors.lastname: Brett
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000209:etiology; D004272:DNA, Mitochondrial / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008931:Mitochondria, Muscle / Q000235:genetics / Q000473:pathology; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D019636:Neurodegenerative Diseases / Q000209:etiology* / Q000473:pathology; D009886:Ophthalmoplegia / Q000209:etiology; D012640:Seizures / Q000209:etiology
chemical_list: D004272:DNA, Mitochondrial