Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. [electronic resource]
Producer: 20050110Description: 719-23 p. digitalISSN:- 0364-5134
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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