Article
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Journal of medical genetics - 1 Sept 2012
Alston Charlotte L, Davison James E, Meloni Francesca, van der Westhuizen Francois H, He Langping, Hornig-Do Hue-Tran, Peet Andrew C, Gissen Paul, Goffrini Paola, Ferrero Ileana, Wassmer Evangeline, McFarland Robert, Taylor Robert W
Abstract excerpt
BACKGROUND: Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency diagnoses. The succinate dehydrogenase (SDH) genes (SDHA, SDHB, SDHC and SDHD) are autosomally-encoded and transcribe the conjugated heterotetramers of complex II via the action of two known assembly factors (SDHAF1 and SDHAF2). Only a handful of reports describe...
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