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Leigh syndrome due to mitochondrial complex V deficiency

MedGen UID:
376835
Concept ID:
C1850600
Disease or Syndrome
Synonyms: Leigh Syndrome due to Mitochondrial Complex V Deficiency
 
OMIM®: 256000

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Li XY, Shi XY, Zhang WN, Zhao M, Hu LY, Yang YL, Zou LP
J Clin Neurosci 2013 Nov;20(11):1591-4. Epub 2013 Aug 13 doi: 10.1016/j.jocn.2013.03.034. [Epub ahead of print] PMID: 23953430
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. [Epub ahead of print] PMID: 22231385
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. [Epub ahead of print] 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. PMID: 8338207

Diagnosis

Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R
Mitochondrion 2013 Nov;13(6):743-8. Epub 2013 Mar 14 doi: 10.1016/j.mito.2013.03.002. [Epub ahead of print] PMID: 23499752Free PMC Article
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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 21540367
Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. PMID: 1313675

Prognosis

Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. 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. [Epub ahead of print] PMID: 22231385
Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. PMID: 1313675

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