Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA


Karaoglu P., Quizon N., Pergande M., Wang H., Polat A. I. , Ersen A. , ...More

BRAIN & DEVELOPMENT, vol.39, no.4, pp.361-364, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1016/j.braindev.2016.11.002
  • Title of Journal : BRAIN & DEVELOPMENT
  • Page Numbers: pp.361-364

Abstract

Background: Dropped head syndrome is an easily recognizable clinical presentation of Laurin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creative kinase.