title: Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction.
abstract: We studied a 62 year-old woman with a clinical phenotype characterized by encephalopathy, restrictive cardiomyopathy, and prominent intestinal pseudo-obstruction. Muscle morphology showed ragged red fibres with ultrastructurally abnormal mitochondrial whereas muscle respiratory chain was normal. Molecular genetics revealed the 'common deletion' in mtDNA, which represented 40% of total mtDNA. These data expand and confirm the wide clinical spectrum of mitochondrial disorders associated with single large-scale mtDNA deletions.
authors.affiliation: Centro de Investigación, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: C
authors.initials: C
authors.lastname: Caballero
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: F
authors.initials: F
authors.lastname: de la Cruz
authors.forename: T
authors.initials: T
authors.lastname: Tuñón
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D009202:Cardiomyopathies / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007415:Intestinal Obstruction / Q000235:genetics*; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial