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

Karaoglu, Pakize; Quizon, Nicolas; Pergande, Matthias; Wang, Haicui; Polat, Ayse; Ersen, AYÇA; ÖZER, ERDENER; Willkomm, Lena; HIZ, AYŞE; Heredia, Raul; Yis, Uluc; Selcen, Duygu; Cirak, Sebahattin

doi:10.1016/j.braindev.2016.11.002

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, Scopus)

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.