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., ...Daha Fazla

BRAIN & DEVELOPMENT, cilt.39, sa.4, ss.361-364, 2017 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.braindev.2016.11.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.361-364
  • Anahtar Kelimeler: Dropped head, LMNA-related congenital muscular dystrophy, Lamin A/C gene, White matter, GENE
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

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.