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Results 1 - 8 of 8 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. ... pigmentosa that causes vision loss.A condition called Leigh syndrome can also be caused by mitochondrial complex V deficiency. Leigh syndrome is characterized by ...
  3. ... a specific syndrome. For example, a condition called Leigh syndrome is most commonly caused by mitochondrial complex I deficiency. Leigh syndrome is characterized by ...
  4. ... PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ...
  5. ... NORD) 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL PubMed Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome ( ...
  6. ... Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to pyruvate carboxylase deficiency PC deficiency Pyruvate ...
  7. SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically ...
  8. ... have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic ...