✦ LIBER ✦

P53 Novel SDHA and SDHB mutations as a cause of isolated mitochondrial complex II deficiency

✍ Scribed by C.L. Alston; F.H. van der Westhuizen; L. He; E. Wassmer; J.E. Davison; G. Falkous; R. McFarland; R.W. Taylor

Book ID: 117670478
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 55 KB
Volume: 22
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(12)70061-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mitochondrial MTND5 frameshift m

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

✍ Charlotte L. Alston; Monika Morak; Christopher Reid; Iain P. Hargreaves; Simon A 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 335 KB

G.P.3.05 A novel heteroplasmic mitochond

G.P.3.05 A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency

✍ C. Alston; C. Reid; R. Horvath; H. Mundy; R.W. Taylor 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 53 KB

De novo mutations in the mitochondrial N

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

✍ Robert McFarland; Denise M. Kirby; Kerry J. Fowler; Akira Ohtake; Michael T. Rya 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 2 views

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