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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.

Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in muscle (88%) and leukocytes (15%), and changes a highly conserved tyrosine to cysteine at amino acid position 278.[1]

References

  1. Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Wibrand, F., Ravn, K., Schwartz, M., Rosenberg, T., Horn, N., Vissing, J. Ann. Neurol. (2001) [Pubmed]
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