title: [Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].
abstract: BACKGROUND
  The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle.
  
  
  METHODS
  We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence.
  
  
  CONCLUSIONS
  The amount of deleted mitochondrial DNA (15%) in this patient's muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited.
authors.affiliation: Servicio de Neuropediatría, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: A
authors.initials: A
authors.lastname: Playán-Ariso
authors.forename: M J
authors.initials: MJ
authors.lastname: Alcaine-Villarroya
authors.forename: A M
authors.initials: AM
authors.lastname: Vernet
authors.forename: A
authors.initials: A
authors.lastname: Serra-Castanera
authors.forename: A
authors.initials: A
authors.lastname: Solano
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: R
authors.initials: R
authors.lastname: Artuch
authors.forename: M
authors.initials: M
authors.lastname: López-Pérez
authors.forename: M P
authors.initials: MP
authors.lastname: Briones-Godino
authors.forename: A
authors.initials: A
authors.lastname: Andreu
authors.forename: J
authors.initials: J
authors.lastname: Montoya
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial; D018450:Disease Progression; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008931:Mitochondria, Muscle; D018482:Muscle, Skeletal / Q000166:cytology / Q000378:metabolism; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis / Q000503:physiopathology*; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial