Historical perspective on mitochondrial medicine
Author:
Publisher
Wiley
Subject
Psychiatry and Mental health,Developmental and Educational Psychology,Pediatrics, Perinatology and Child Health
Reference139 articles.
1. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nature Genet,2000
2. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA;Andreu;New Engl J Med,1999
3. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and acount for multiple, early-onset clinical phenotypes associated with isolated COX deficiency;Antonicka;Hum Mol Genet,2003a
4. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy;Antonicka;Am J Hum Genet,2003b
5. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder;Bardosi;Acta Neuropathol,1987
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