Giant axonal disease: Report of eight cases


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

BRAIN & DEVELOPMENT, cilt.37, ss.803-807, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.braindev.2014.12.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Sayfa Sayısı: ss.803-807

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.