Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases
JA Morgan-Hughes, AHV Schapira, JM Cooper… - Journal of Bioenergetics …, 1988 - Springer
JA Morgan-Hughes, AHV Schapira, JM Cooper, JB Clark
Journal of Bioenergetics and Biomembranes, 1988•SpringerDefects in Complex I of the mitochondrial respiratory chain have been identified in 38
patients. The clinical and laboratory features are reviewed and the results of recently
devised strategies aimed at characterizing the primary molecular and genetic abnormalities
are presented. Although not exhaustive, these studies have provided a molecular basis for
the contention that defects in Complex I may have their origin in nuclear or in mitochondrial
genes.
patients. The clinical and laboratory features are reviewed and the results of recently
devised strategies aimed at characterizing the primary molecular and genetic abnormalities
are presented. Although not exhaustive, these studies have provided a molecular basis for
the contention that defects in Complex I may have their origin in nuclear or in mitochondrial
genes.
Abstract
Defects in Complex I of the mitochondrial respiratory chain have been identified in 38 patients. The clinical and laboratory features are reviewed and the results of recently devised strategies aimed at characterizing the primary molecular and genetic abnormalities are presented. Although not exhaustive, these studies have provided a molecular basis for the contention that defects in Complex I may have their origin in nuclear or in mitochondrial genes.
Springer
