KEGG   VARIANT: 6392v1
Entry
6392v1                      Variant                                
Name
SDHD deficiency
Type
Loss of function
Gene
SDHD  succinate dehydrogenase complex subunit D [KO:K00237]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602690
Network
nt06031  Citrate cycle and pyruvate metabolism
nt06529  Thermogenesis
Disease
H02005  Mitochondrial complex II deficiency
Reference
PMID:24367056
  Authors
Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A
  Title
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 51:170-5 (2014)
DOI:10.1136/jmedgenet-2013-101932
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