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doi: 10.1016/j.taap.2011.03.001
A landmark discovery in 1995 revealed the first nuclear gene mutation causing mitochondrial respiratory chain deficiency in humans: a mutation in the nuclear-encoded flavoprotein subunit gene of succinate dehydrogenase led to complex II deficiency in two sisters with Leigh syndrome
Rashighi M, Harris JE
Claim faces scrutiny
Massey, V., & Williams, C
