Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.
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.
Gerbitz
K D
KD
Institut für Klinische Chemie und Forschergruppe Diabetes, Städtisches Krankenhaus, München, Schwabing, Federal Republic of Germany.
Obermaier-Kusser
B
B
Zierz
S
S
Pongratz
D
D
Müller-Höcker
J
J
Lestienne
P
P
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*
D015342:DNA Probes; D004272:DNA, Mitochondrial