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Results 21 - 30 of 33 for Leigh "syndrome," mitochondrial
Did you mean light "syndrome," mitochondrial?
  1. MEGDEL syndrome 
    ... 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 ( ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. SERAC1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition ... D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome ( ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  3. FBXL4 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition ... Almannai M, Dai H, El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  4. PDHA1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About ... PubMed PYRUVATE DEHYDROGENASE E1-ALPHA ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
  5. MT-TK gene 
    ... Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical ... Y. The T-C(8356) mitochondrial DNA mutation in a Japanese family. J Neurol. ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  6. PDHX gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome ... PubMed PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT ...
    https://medlineplus.gov/genetics/gene/pdhx - Genetics
  7. ETHE1 gene 
    ... sulfide inhibits the activity of COX, which disrupts mitochondrial energy production and ... ETHE1_HUMAN ethylmalonic ...
    https://medlineplus.gov/genetics/gene/ethe1 - Genetics
  8. Pyruvate carboxylase deficiency 
    ... Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to pyruvate carboxylase deficiency PC deficiency Pyruvate ...
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency - Genetics
  9. SUCLA2-related mitochondrial DNA depletion syndrome 
    SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  10. Cytochrome c oxidase deficiency 
    ... 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 ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
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