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 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1016/j.braindev.2016.11.002
  • Journal Name: BRAIN & DEVELOPMENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.361-364
  • Keywords: Dropped head, LMNA-related congenital muscular dystrophy, Lamin A/C gene, White matter, GENE
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

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.