Browsing Research Output by Author "Alston, Charlotte L."
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Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Alston, Charlotte L.; Van der Westhuizen, Francois H.; Davison, James E.; Meloni, Francesca; He, Langping (BMJ Publishing Group, 2012)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 ...