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

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Leigh syndrome
        Leigh syndrome due to mitochondrial complex II deficiency

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: 24781757 Free PMC Article

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Leigh syndrome due to mitochondrial complex II deficiency

Term Hierarchy

Recent clinical studies

Diagnosis

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Reviews

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