title: Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review.
abstract: Various mitochondrial DNA abnormalities have been described in patients with encephalomyopathies. We performed Southern blot analysis of skeletal muscle mitochondrial DNA in nine adult patients with clinical features and ragged red fibres suggesting mitochondrial dysfunction. Two patients with encephalomyopathy and two with the MERRF syndrome (myoclonus epilepsy with ragged red fibres) had the normal PvuII restriction pattern of muscle mitochondrial DNA. In contrast, mitochondrial DNA deletion was observed in two of six patients with ophthalmoplegia. One suffered from typical Kearns-Sayre syndrome and the other from isolated external ophthalmoplegia. None of these patients had affected relatives. The detection of mitochondrial DNA deletion in external ophthalmoplegia and their site and size support previously reported data.
authors.affiliation: Départment de Neurosciences, Hôpital Henri Mondor, Créteil, France.
authors.forename: C
authors.initials: C
authors.lastname: Geny
authors.forename: V
authors.initials: V
authors.lastname: Cormier
authors.forename: C
authors.initials: C
authors.lastname: Meyrignac
authors.forename: P
authors.initials: P
authors.lastname: Cesaro
authors.forename: J D
authors.initials: JD
authors.lastname: Degos
authors.forename: R
authors.initials: R
authors.lastname: Gherardi
authors.forename: A
authors.initials: A
authors.lastname: Rötig
mesh_terms: D015139:Blotting, Southern; D001927:Brain Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D004272:DNA, Mitochondrial / Q000032:analysis*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000737:chemistry*; D009886:Ophthalmoplegia / Q000235:genetics; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial