Mitochondrial myopathies: divergences of genetic deletions,biochemical defects and the clinical syndromes |
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| Authors: | K.-D. Gerbitz B. Obermaier-Kusser S. Zierz D. Pongratz J. Müller-Höcker P. Lestienne |
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| Affiliation: | (1) Institut für Klinische Chemie und Forschergruppe Diabetes, Städtisches Krankenhaus, D-8000 München (Schwabing), Federal Republic of Germany;(2) Neurologische Universitätsklinik, D-5300 Bonn, Federal Republic of Germany;(3) Friedrich-Baur-Institut an der Universität München, D-8000 München, Federal Republic of Germany;(4) Pathologisches Institut der Universität München, D-8000 München, Federal Republic of Germany;(5) INSERM U298 Centre Hospitalier Regional d'Angers, F-49033 Angers-Cedex, France |
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| Abstract: | ![]()
Summary 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 hetero-plasmic 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 histo-chemical and biochemical data or the severity of the disease, on the other. |
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| Keywords: | Mitochondrial DNA Mitochondrial myopathy Chronic progressive external ophthalmoplegia Kearns-Sayre syndrome |
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