𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome

✍ Scribed by A. Vanniarajan; G. P. Rajshekher; M. B. Joshi; A. G. Reddy; L. Singh; K. Thangaraj


Book ID
109337461
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
304 KB
Volume
114
Category
Article
ISSN
0001-6314

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel recurrent mitochondrial DNA muta
✍ 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

A previously undescribed leukodystrophy
✍ Po-Cheng Hung; Huei-Shyong Wang πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 191 KB

We report two male Taiwanese siblings in whom the T→C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffus

MRI in Leigh syndrome with SURF1 gene mu
✍ Mario Savoiardo; Massimo Zeviani; Graziella Uziel; Laura Farina πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 61 KB πŸ‘ 2 views