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Leigh syndrome due to mitochondrial complex II deficiency

MedGen UID:
342542
•Concept ID:
C1850597
•
Disease or Syndrome
Synonym: Leigh Syndrome Due To Mitochondrial Complex II Deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
Renkema GH, Wortmann SB, Smeets RJ, Venselaar H, Antoine M, Visser G, Ben-Omran T, van den Heuvel LP, Timmers HJ, Smeitink JA, Rodenburg RJ
Eur J Hum Genet 2015 Feb;23(2):202-9. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.80. PMID: 24781757Free PMC Article

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