Publisher Summary This chapter focuses on the biochemical assays of the respiratory chain
(RC) complex activity. It presents the preparation of mitochondrial fractions from tissues and …

We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees,
35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects …

Biochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid
misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative …

Discovering the molecular basis of mitochondrial respiratory chain disease is challenging
given the large number of both mitochondrial and nuclear genes that are involved. We report …

Objective: To define the spectrum of clinical and biochemical features in 51 children with
isolated complex I deficiency. Background: Mitochondrial respiratory chain defects are one …

Complex I deficiency, the most common respiratory chain defect, is genetically
heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I …

Complex I is the largest of the mitochondrial respiratory chain enzyme complexes, consisting
of at least 46 subunits, seven of which are encoded by mtDNA. Deficiency of complex I is the …

In humans, complex I of the respiratory chain is composed of seven mitochondrial DNA
(mtDNA)‐encoded and 38 nuclear‐encoded subunits that assemble together in a process …

Complex I (NADH: ubiquinone oxidoreductase) is the first and largest multimeric complex of
the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by …

Both nuclear and mitochondrial DNA mutations can cause energy generation disorders.
Respiratory chain complex I deficiency is the most common energy generation disorder and …