title: Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.
abstract: Genomic Southern analysis of muscle mitochondrial (mt) DNA from 16 patients with mitochondrial myopathies was performed; 14 of 16 patients had chronic progressive external ophthalmoplegia (CPEO), while 2 patients had mitochondrial myopathies without CPEO. Eleven patients with CPEO, including 5 who exhibited the complete triad of symptoms characteristic of the Kearns-Sayre syndrome (i.e. CPEO, retinal degeneration and heart block) had heteroplasmic mtDNA with deletions ranging from 2.0 to 8.0 kb in length. There was no clear-cut correlation between the size and location of the deletions, on the one hand, and the histochemical and biochemical data or the severity of the disease, on the other.
authors.affiliation: Institut für Klinische Chemie und Forschergruppe Diabetes, Städtisches Krankenhaus, München, Schwabing, Federal Republic of Germany.
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
authors.forename: B
authors.initials: B
authors.lastname: Obermaier-Kusser
authors.forename: S
authors.initials: S
authors.lastname: Zierz
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: P
authors.initials: P
authors.lastname: Lestienne
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D002908:Chronic Disease; D030401:Cytochrome-c Oxidase Deficiency; D015342:DNA Probes; D004272:DNA, Mitochondrial / Q000235:genetics*; D006651:Histocytochemistry; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000201:enzymology / Q000235:genetics*; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000473:pathology; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics*; D009886:Ophthalmoplegia / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004272:DNA, Mitochondrial