title: Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.
abstract: Six patients in two unrelated families from the eastern Arabian peninsula presented with childhood-onset progressive external ophthalmoplegia (PEO), mild facial and proximal limb weakness, and severe cardiomyopathy requiring cardiac transplantation. Muscle biopsies showed ragged-red and cytochrome c oxidase-negative fibers. The activities of several complexes in the electron-transport chain were decreased and Southern blot analysis showed multiple mtDNA deletions. The apparent autosomal-recessive inheritance and the association with cardiomyopathy distinguish this syndrome from autosomal-dominant PEO with multiple mtDNA deletions. The combination of autosomal-recessive PEO, cardiomyopathy, and multiple mtDNA deletions appears to be another disease due to a defect of communication between the nuclear and mitochondrial genomes.
authors.affiliation: Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
authors.forename: S
authors.initials: S
authors.lastname: Bohlega
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: A
authors.initials: A
authors.lastname: al-Jishi
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000293:Adolescent; D000328:Adult; D018912:Arabs; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D004562:Electrocardiography; D004576:Electromyography; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D016027:Heart Transplantation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism; D018656:Muscle Fibers, Fast-Twitch / Q000201:enzymology / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D015345:Oligonucleotide Probes; D009886:Ophthalmoplegia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D015345:Oligonucleotide Probes; D003576:Electron Transport Complex IV