Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria
β Scribed by G. T. N. Besley; M. Lendon; D. M. Broadhead; J. Till; L. E. Heptinstall; B. Phillips
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 162 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3meth
## 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