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Leigh syndrome due to mitochondrial complex III deficiency

MedGen UID:
376834
Concept ID:
C1850598
Disease or Syndrome
Synonym: Leigh Syndrome due to Mitochondrial Complex III Deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S
Am J Med Genet A 2015 Jun;167(6):1330-6. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.36968. PMID: 25899669

Diagnosis

Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J; Undiagnosed Diseases Network, Tifft CJ, Gordon-Lipkin E
Mol Genet Genomic Med 2021 Jun;9(6):e1692. Epub 2021 May 7 doi: 10.1002/mgg3.1692. PMID: 33960148Free PMC Article

Clinical prediction guides

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S
Am J Med Genet A 2015 Jun;167(6):1330-6. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.36968. PMID: 25899669

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