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Leigh syndrome due to mitochondrial complex V deficiency

MedGen UID:
376835
Concept ID:
C1850600
Disease or Syndrome
Synonym: Leigh Syndrome due to Mitochondrial Complex V Deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385

Recent clinical studies

Etiology

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385
Kulkarni R, Marples B, Balasubramaniam M, Thomas RA, Tucker JD
Radiat Res 2010 May;173(5):635-44. doi: 10.1667/RR1737.1. PMID: 20426663
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E
Brain 2009 Jan;132(Pt 1):136-46. Epub 2008 Nov 16 doi: 10.1093/brain/awn296. PMID: 19015156
Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J
Am J Med Genet A 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. PMID: 16532470
De Vivo DC
Brain Dev 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p. PMID: 8338207

Diagnosis

Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M
J Child Neurol 2012 Aug;27(8):1059-61. Epub 2012 Jan 12 doi: 10.1177/0883073811431015. PMID: 22241703
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385
Ma YY, Zhang XL, Wu TF, Liu YP, Wang Q, Zhang Y, Song JQ, Wang YJ, Yang YL
J Child Neurol 2011 Aug;26(8):974-9. Epub 2011 May 3 doi: 10.1177/0883073811399905. PMID: 21540367
Kulkarni R, Marples B, Balasubramaniam M, Thomas RA, Tucker JD
Radiat Res 2010 May;173(5):635-44. doi: 10.1667/RR1737.1. PMID: 20426663
Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. doi: 10.1016/0887-8994(92)90048-4. PMID: 1313675

Prognosis

Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. doi: 10.1016/0887-8994(92)90048-4. PMID: 1313675

Clinical prediction guides

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385
Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. doi: 10.1016/0887-8994(92)90048-4. PMID: 1313675

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