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A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

โœ Scribed by Charlotte L. Alston; Monika Morak; Christopher Reid; Iain P. Hargreaves; Simon A.S. Pope; John M. Land; Simon J. Heales; Rita Horvath; Helen Mundy; Robert W. Taylor


Book ID
116794332
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
335 KB
Volume
20
Category
Article
ISSN
0960-8966

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โœ Emmanuelle Sarzi; Michael D. Brown; Sophie Lebon; Dominique Chretien; Arnold Mun ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 156 KB ๐Ÿ‘ 2 views

## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor