KEGG   VARIANT: 6390v1
Entry
6390v1                      Variant                                
Name
SDHB deficiency
Type
Loss of function
Gene
SDHB  succinate dehydrogenase complex iron sulfur subunit B [KO:K00235]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 185470
Network
nt06031  Citrate cycle and pyruvate metabolism
nt06529  Thermogenesis
Disease
H02005  Mitochondrial complex II deficiency
Reference
  Authors
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
  Title
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 49:569-77 (2012)
DOI:10.1136/jmedgenet-2012-101146
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