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NEUROLOGY 2004;62:316-318
© 2004 American Academy of Neurology
Brief Communications

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

M. Mancuso, MD, M. Filosto, MD, M. Bellan, MD, R. Liguori, MD, P. Montagna, MD, A. Baruzzi, MD, S. DiMauro, MD and V. Carelli, MD

From the Department of Neurology (Drs. Mancuso, Filosto, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; and Department of Neurological Sciences (Drs. Bellan, Liguori, Montagna, Baruzzi, and Carelli), University of Bologna, Italy.

Address correspondence and reprint requests to Dr. Salvatore DiMauro, 4-420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; e-mail: sd12{at}columbia.edu

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.

Received July 30, 2003. Accepted in final form September 17, 2003.




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