Genetic causes of mitochondrial complex I deficiency in children
Abstract The mitochondrial oxidative phosphorylation system is composed of five multisubunit enzyme complexes. Complex I is the first and largest of these, containing 46 subunits, seven encoded by mitochondrial DNA (mtDNA) and the rest by nuclear DNA. Isolated complex I deficiency is a major cause...
Main Author: | Hinttala, R. (Reetta) |
---|---|
Format: | Doctoral Thesis |
Language: | English |
Published: |
University of Oulu
2006
|
Subjects: | |
Online Access: | http://urn.fi/urn:isbn:9514282884 http://nbn-resolving.de/urn:isbn:9514282884 |
Similar Items
-
Metabolic effects of bezafibrate in mitochondrial disease
by: Hannah Steele, et al.
Published: (2020-03-01) -
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
by: Dario Ronchi, et al.
Published: (2020-08-01) -
Roles of Mitochondrial DNA Mutations in Stem Cell Ageing
by: Tianhong Su, et al.
Published: (2018-03-01) -
Current Opinion on the Clinical Approach to the Diagnosis of Mitochondrial Disease
by: Peterus Thajeb, et al.
Published: (2007-03-01) -
Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
by: Antonios Tawk, et al.
Published: (2020-04-01)