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Leigh "syndrome," mitochondrial
Did you mean light "syndrome," mitochondrial?
- ... Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) Leigh syndrome Mitochondrial DNA-associated Leigh syndrome National Organization for Rare ...
- ... Sudo A, Honzawa S, Nonaka I, Goto YI. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in ...
- ... pigmentosa that causes vision loss.A condition called Leigh syndrome can also be caused by mitochondrial complex V deficiency. Leigh syndrome is characterized by ...
- ... tRNA-Val, mitochondrial Tests of MT-TV PubMed LEIGH SYNDROME, NUCLEAR; NULS TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV NCBI Gene ClinVar Blakely EL, Poulton ...
- ... oxidative phosphorylation. For example, the most commonly mutated mitochondrial gene in Leigh syndrome, MT-ATP6, provides instructions for a protein that ...
- ... a specific syndrome. For example, a condition called Leigh syndrome is most commonly caused by mitochondrial complex I deficiency. Leigh syndrome is characterized by ...
- ... Gene ClinVar Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ... may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the ... A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal ...
- ... PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ...
- ... Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol. ...
- ... variant is related to the specific features of Leigh syndrome. More About This Health Condition MedlinePlus Genetics provides information about Mitochondrial complex I deficiency More About This Health Condition ...