caa a22 4500 469044829 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799606 doi (NATIONALLICENCE)springer-10.1007/BF01799606 Deletions of the mitochondrial genome [Elektronische Daten] [A. Harding, S. Hammans] Summary: Single large deletions of mitochondrial DNA are found in the muscle of about 40% of patients with mitochondrial myopathies, and are detectable in both blood and muscle in Pearson syndrome. In mitochondrial myopathies, there is a close association between the presence of deletions and involvement of extra-ocular muscles, together with other features of the Kearns-Sayre syndrome. Deletions appear to arise as fresh mutations in the vast majority of patients and are often flanked by direct repeats up to 13 nucleotides in length. They should affect translation of all mitochondrially encoded components of the respiratory chain, but there is evidence to suggest that intramitochondrial complementation occurs in some cases. SSIEM and Kluwer Academic Publishers, 1992 Harding A. Institute of Neurology, University Department of Clinical Neurology, Queen Square, WC1N 3BG, London, UK aut Hammans S. Institute of Neurology, University Department of Clinical Neurology, Queen Square, WC1N 3BG, London, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 480-486 0141-8955 15:4<480 1992 15 10545 https://doi.org/10.1007/BF01799606 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799606 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Harding A. Institute of Neurology, University Department of Clinical Neurology, Queen Square, WC1N 3BG, London, UK aut NATIONALLICENCE 700 1- Hammans S. Institute of Neurology, University Department of Clinical Neurology, Queen Square, WC1N 3BG, London, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 480-486 0141-8955 15:4<480 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer