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Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations Procaccio V; Wallace DCNeurology 2004[May]; 62 (10): 1899-901Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I.|*Mutation, Missense[MESH]|Age of Onset[MESH]|Amino Acid Sequence[MESH]|Child[MESH]|Disease Progression[MESH]|Dysarthria/genetics[MESH]|Electron Transport Complex I/*genetics[MESH]|Female[MESH]|Gait Disorders, Neurologic/genetics[MESH]|Heterozygote[MESH]|Humans[MESH]|Leigh Disease/*genetics[MESH]|Lymphocytes/chemistry/ultrastructure[MESH]|Mitochondria, Muscle/chemistry/ultrastructure[MESH]|Mitochondria/chemistry/ultrastructure[MESH]|Molecular Sequence Data[MESH]|NAD(P)H Dehydrogenase (Quinone)/*genetics[MESH]|NADH Dehydrogenase[MESH]|Phenotype[MESH]|Sequence Alignment[MESH]|Sequence Homology, Amino Acid[MESH] |
