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

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POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.[1]

References

  1. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Mancuso, M., Filosto, M., Bellan, M., Liguori, R., Montagna, P., Baruzzi, A., DiMauro, S., Carelli, V. Neurology (2004) [Pubmed]
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