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Results 1 - 10 of 33 for Leigh "syndrome," mitochondrial
  1. ... Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) Leigh syndrome Mitochondrial DNA-associated Leigh syndrome National Organization for Rare ...
  2. ... Sudo A, Honzawa S, Nonaka I, Goto YI. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in ...
  3. ... pigmentosa that causes vision loss.A condition called Leigh syndrome can also be caused by mitochondrial complex V deficiency. Leigh syndrome is characterized by ...
  4. ... tRNA-Val, mitochondrial Tests of MT-TV PubMed LEIGH SYNDROME, NUCLEAR; NULS TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV NCBI Gene ClinVar Blakely EL, Poulton ...
  5. ... oxidative phosphorylation. For example, the most commonly mutated mitochondrial gene in Leigh syndrome, MT-ATP6, provides instructions for a protein that ...
  6. ... a specific syndrome. For example, a condition called Leigh syndrome is most commonly caused by mitochondrial complex I deficiency. Leigh syndrome is characterized by ...
  7. ... 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 ...
  8. ... PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ...
  9. ... Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol. ...
  10. ... 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 ...
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