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

M. Mancuso, M. Filosto, M. Bellan, R. Liguori, P. Montagna, A. Baruzzi, Salvatore DiMauro, V. Carelli

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)316-318
Number of pages3
JournalNeurology
Volume62
Issue number2
Publication statusPublished - Jan 27 2004

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mancuso, M., Filosto, M., Bellan, M., Liguori, R., Montagna, P., Baruzzi, A., DiMauro, S., & Carelli, V. (2004). POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology, 62(2), 316-318.