Article
Mitochondrial cytopathies and neuromuscular disorders.
Acta neurologica Belgica - 1 Sept 2000
Van Coster R, De Meirleir L
Abstract excerpt
In the last decade, mitochondrial diseases were shown not to be rare but to represent an important group of metabolic disorders. Defects are caused by mutations either located in nuclear genes or in mitochondrial genes. Nuclear gene defects are found in complex IV deficient and complex I deficient patients. Deficiencies of complex II are extremely rare. Different phenotypes are associated with complex IV...
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