A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.

Abstract

We have identified a new mitochondrial (mt) cytochrome b mutation in a 29-year-old man with progressive exercise muscle intolerance associated with a marked deficiency of complex III activity and a decreased amount of mitochondrial-encoded cytochrome b. This G to A transition at mtDNA position 15615 leads to the substitution (G290D) of a very highly… (More)

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