Article
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.
The FEBS journal - 1 Jul 2005
Blakely Emma L, Mitchell Anna L, Fisher Nicholas, Meunier Brigitte, Nijtmans Leo G, Schaefer Andrew M, Jackson Margaret J, Turnbull Douglass M, Taylor Robert W
Abstract excerpt
Whereas the majority of disease-related mitochondrial DNA mutations exhibit significant biochemical and clinical heterogeneity, mutations within the mitochondrially encoded human cytochrome b gene (MTCYB) are almost exclusively associated with isolated complex III deficiency in muscle and a clinical presentation involving exercise intolerance. Recent studies have shown that a small number of MTCYB mutations are...
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