GFPT1-myasthenia Clinical, structural, and electrophysiologic heterogeneity

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

NEUROLOGY, vol.81, no.4, pp.370-378, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 81 Issue: 4
  • Publication Date: 2013
  • Doi Number: 10.1212/wnl.0b013e31829c5e9c
  • Journal Name: NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.370-378
  • Istanbul University Affiliated: Yes


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