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Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies

✍ Scribed by Collombet, J.-M. ;Mandon, G. ;Dumoulin, R. ;Mousson, B. ;Stepien, G.


Publisher
Springer
Year
1996
Tongue
English
Weight
477 KB
Volume
253
Category
Article
ISSN
0026-8925

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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