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Results 1 - 10 of 61 for Complex V deficiency
  1. TMEM70 gene 
    ... have been identified in people who have mitochondrial complex V deficiency, a disorder with a wide variety of signs ... descent, and account for the majority of mitochondrial complex V deficiency cases caused by TMEM70 gene mutations. This disorder ...
    https://medlineplus.gov/genetics/gene/tmem70 - Genetics
  2. MT-ATP6 gene 
    ... Health Condition MedlinePlus Genetics provides information about Mitochondrial complex V deficiency More About This Health Condition Some of the ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  3. BCS1L gene 
    ... Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. Hum Mutat. 2010 Aug;31(8):930-41. doi: 10.1002/humu.21294. Citation on PubMed Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  4. MT-ND5 gene 
    ... Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rotig A, Munnich A. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003 Mar;40(3):188- ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  5. ADSL gene 
    ... Free article on PubMed Central Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat. 2010 Apr;31(4):445-55. ...
    https://medlineplus.gov/genetics/gene/adsl - Genetics
  6. PDP1 gene 
    ... R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency ... N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics
  7. EPM2A gene 
    ... Regulation of glycogen synthesis by the laforin-malin complex is modulated by the ... deficiency of which leads to elevated phosphorylation of glycogen ...
    https://medlineplus.gov/genetics/gene/epm2a - Genetics
  8. SDHC gene 
    ... large subunit Tests of SDHC ... doi: 10.3389/fonc.2013.00117. eCollection 2013. Citation on PubMed Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, ...
    https://medlineplus.gov/genetics/gene/sdhc - Genetics
  9. MMACHC gene 
    ... This Health Condition cblC DKFZP564I122 methylmalonic aciduria (cobalamin ... V, Fowler B, Baumgartner MR, Yue WW. Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. J Biol Chem. ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  10. DLD gene 
    ... gene have been found to cause dihydrolipoamide dehydrogenase deficiency. The signs and symptoms of this severe condition ... to neurological problems in people with dihydrolipoamide dehydrogenase deficiency. A reduction in pyruvate dehydrogenase function results in ...
    https://medlineplus.gov/genetics/gene/dld - Genetics
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