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The first report of a nuclear gene mutation causing a mitochondrial respiratory chain deficiency in humans was identified in two sisters presenting with developmental regression at 10 months of age, pyramidal tract signs, leukodystrophy with early demise, Complex II deficiency, and homozygous mutations (R554W) in the SDHA gene [122,123]

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Disposable plastic fluorescence cuvettes (Sarstedt, Number 67,754) were used throughout