GFPT1-myasthenia Clinical, structural, and electrophysiologic heterogeneity


Selcen D., Shen X., Milone M., Brengman J., Ohno K., Deymeer F. , ...Daha Fazla

NEUROLOGY, cilt.81, ss.370-378, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 81 Konu: 4
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1212/wnl.0b013e31829c5e9c
  • Dergi Adı: NEUROLOGY
  • Sayfa Sayıları: ss.370-378

Özet

Objective: To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations.