Giant axonal disease: Report of eight cases

İNCECİK F., HERGUNER O. M., CEYLANER S., ZORLUDEMİR S., ALTUNBAŞAK Ş.

BRAIN & DEVELOPMENT, cilt.37, sa.8, ss.803-807, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.braindev.2014.12.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.803-807
  • Anahtar Kelimeler: Giant axonal neuropathy, GAN mutations, Children, CHROMOSOME 16Q24.1, ALGERIAN FAMILY, NERVOUS-SYSTEM, NEUROPATHY, GENE, GIGAXONIN
  • Çukurova Üniversitesi Adresli: Evet

Özet

Background: Giant axonal neuropathy (GAN) is an autosomal recessive inherited progressive motor and sensory neuropathy with typical onset in early childhood. The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN.