Article
Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.
Human molecular genetics - 1 Jul 2002
Sasarman Florin, Karpati George, Shoubridge Eric A
Abstract excerpt
Oxidative phosphorylation deficiencies can be caused by mutations in either the nuclear genome or the mitochondrial genome (mtDNA); however, most pathogenic mutations reported in adults occur in mtDNA. Such mutations often impair mitochondrial translation, and are associated with a characteristic muscle pathology consisting of a mosaic pattern of normal fibres interspersed with fibres that show mitochondrial...
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