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PMID: 2156958 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.

Journal of neurology ·Vol. 237 ·No. 1 ·1990-02-00 ·Pages 5-10

Gerbitz KD, Obermaier-Kusser B, Zierz S, Pongratz D, Müller-Höcker J, Lestienne P

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.

MeSH Terms
Adolescent Adult Blotting, Southern Child Chromosome Deletion Chronic Disease Cytochrome-c Oxidase Deficiency DNA Probes DNA, Mitochondrial/genetics Histocytochemistry Humans Kearns-Sayre Syndrome/enzymology,genetics Middle Aged Mitochondria, Muscle/enzymology,pathology Muscular Diseases/enzymology,genetics Ophthalmoplegia/genetics
Chemicals
DNA Probes DNA, Mitochondrial
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Gerbitz K D
Institut für Klinische Chemie und Forschergruppe Diabetes, Städtisches Krankenhaus, München, Schwabing, Federal Republic of Germany.
Obermaier-Kusser B
Zierz S
Pongratz D
Müller-Höcker J
Lestienne P
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Article Info
Journal
Journal of neurology
Abbr.
J Neurol
ISSN
0340-5354
DOI
10.1007/BF00319660
Published
1990-02-00
Pages
5-10
Language
English
Region
Germany
NLM ID
0423161
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00319660 View journal details
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