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. , et al.

BRAIN & DEVELOPMENT, cilt.39, ss.361-364, 2017 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 39 Konu: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.braindev.2016.11.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Sayfa Sayısı: ss.361-364

Özet

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.