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Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: Defect in mitochondrial protein synthesis

✍ Scribed by Herawati Sudoyo; S. Marzuki; E. Byrne; F. Mastaglia

Book ID
118931711
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
911 KB
Volume
117
Category
Article
ISSN
0022-510X

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Phenotype–genotype correlations in skele
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✍ Dr. C. T. Moraes; Dr. M. Sciacco; Dr. E. Ricci; Dr. C. H. Tengan; Dr. H. Hao; Dr πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 409 KB

Large-scale deletions of mitochondrial DNA (mtDNA) have been associated with a subgroup of mitochondrial encephalomyopathies, usually characterized by progressive external ophthalmoplegia (PEO) and mitochondrial proliferation in muscle fibers. We and others have shown that muscle from patients with