Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. [electronic resource]
- Annals of neurology Nov 2004
- 719-23 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0364-5134
10.1002/ana.20278 doi
Adenosine Triphosphate--deficiency Adolescent Adult Aged DNA Mutational Analysis--methods Exons--genetics Family Health Female GTP Phosphohydrolases--genetics Humans Magnetic Resonance Spectroscopy Male Middle Aged Mitochondria, Muscle--metabolism Optic Atrophy, Autosomal Dominant--genetics Phosphocreatine--metabolism Sequence Deletion Time Factors