𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

✍ Scribed by Quinonez, Shane C.; Leber, Steven M.; Martin, Donna M.; Thoene, Jess G.; Bedoyan, Jirair K.

Book ID
125463356
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
394 KB
Volume
48
Category
Article
ISSN
0887-8994

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

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 πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 156 KB πŸ‘ 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