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Hallmann K., Zsurka G., Moskau-Hartmann S., Kirschner J., Korinthenberg R., Ruppert A., ...More
NEUROLOGY, vol.83, no.23, pp.2183-2187, 2014 (SCI-Expanded)
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Science Citation Index Expanded (SCI-EXPANDED)
Acibadem Mehmet Ali Aydinlar University Affiliated:
Objective: We report a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome including severe myoclonic epilepsy, progressive spastic tetraparesis, progressive impairment of vision and hearing, as well as progressive cognitive decline.