caa a22 4500 469044756 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799604 doi (NATIONALLICENCE)springer-10.1007/BF01799604 Zeviani M. Istituto Nazionale Neurologico ‘C Besta', Divisione di Biochimica e Genetica, via Celoria 11, 20133, Milano, Italy aut Nucleus-driven mutations of human mitochondrial DNA [Elektronische Daten] [M. Zeviani] Summary: Neuromuscular disorders due to abnormalities of mitochondrial energy supply have become an important area of human pathology. In particular, lesions of the mitochondrial genome (mtDNA), a small extra-nuclear chromosome which encodes 13 subunits of the respiratory chain complexes, are responsible for a steadily increasing number of neuromuscular syndromes. In addition to sporadic or maternally-inherited mutations, either qualitative or quantitative abnormalities of mtDNA can be transmitted as Mendelian traits, leading to well-defined mitochondrial encephalomyopathies. The latter are presumably caused by mutations in still unknown nucleus-encoded genes which deleteriously interact with the mitochondrial genome. These observations are of importance from both clinical and theoretical points of view, because they are the first examples of diseases produced by abnormalities of the nuclear control over mitochondrial biogenesis. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 456-471 0141-8955 15:4<456 1992 15 10545 https://doi.org/10.1007/BF01799604 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799604 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Zeviani M. Istituto Nazionale Neurologico ‘C Besta', Divisione di Biochimica e Genetica, via Celoria 11, 20133, Milano, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 456-471 0141-8955 15:4<456 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer