Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
Article first published online: 28 AUG 2001
Copyright © 2001 Wiley-Liss, Inc.
Annals of Neurology
Volume 50, Issue 4, pages 540–543, October 2001
How to Cite
Wibrand, F., Ravn, K., Schwartz, M., Rosenberg, T., Horn, N. and Vissing, J. (2001), Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Ann Neurol., 50: 540–543. doi: 10.1002/ana.1224
- Issue published online: 8 OCT 2001
- Article first published online: 28 AUG 2001
- Manuscript Accepted: 26 JUN 2001
- Manuscript Revised: 25 JUN 2001
- Manuscript Received: 6 MAR 2001
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.