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

✍ Scribed by K.-D. Gerbitz; B. Obermaier-Kusser; S. Zierz; D. Pongratz; J. Müller-Höcker; P. Lestienne

Publisher
Springer
Year
1990
Tongue
English
Weight
776 KB
Volume
237
Category
Article
ISSN
0340-5354

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✦ Synopsis

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.

📜 SIMILAR VOLUMES

Mitochondrial myopathies: Clinical and b
Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
✍ I. J. Holt; Dr A. E. Harding; J. M. Cooper; A. H. V. Schapira; A. Toscano; J. B. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 908 KB

Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional