title: Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.
abstract: We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion. This case extends the clinical phenotype of the Pearson syndrome and raises the possibility that developmentally regulated tissue-specific nuclear factors are responsible for the differential phenotypic expression of these two mitochondrial disorders.
authors.affiliation: Department of Pediatric Neurology, Phoenix Children's Hospital, Arizona.
authors.forename: S M
authors.initials: SM
authors.lastname: Bernes
authors.forename: C
authors.initials: C
authors.lastname: Bacino
authors.forename: T R
authors.initials: TR
authors.lastname: Prezant
authors.forename: M A
authors.initials: MA
authors.lastname: Pearson
authors.forename: T S
authors.initials: TS
authors.lastname: Wood
authors.forename: P
authors.initials: P
authors.lastname: Fournier
authors.forename: N
authors.initials: N
authors.lastname: Fischel-Ghodsian
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001482:Base Composition / Q000235:genetics; D015139:Blotting, Southern; D004272:DNA, Mitochondrial / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial