A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy


Hallmann K., Zsurka G., Moskau-Hartmann S., Kirschner J., Korinthenberg R., Ruppert A., ...Daha Fazla

NEUROLOGY, cilt.83, ss.2183-2187, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 83 Konu: 23
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1212/wnl.0000000000001055
  • Dergi Adı: NEUROLOGY
  • Sayfa Sayıları: ss.2183-2187

Özet

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.