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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 81 Issue: 4
  • Publication Date: 2013
  • Doi Number: 10.1212/wnl.0b013e31829c5e9c
  • Title of Journal : NEUROLOGY
  • Page Numbers: pp.370-378

Abstract

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