Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

A novel recurrent mitochondrial DNA muta

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

✍ Emmanuelle Sarzi; Michael D. Brown; Sophie Lebon; Dominique Chretien; Arnold Mun 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 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