Anomalie isolée d'un complexe de la phosphorylation oxydative
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- Pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Huntington disease
- COASY protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Leukodystrophy
- Hereditary spastic paraplegia
- Neuroferritinopathy
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration