Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease

Gokcal E., Bilir B., BATTALOĞLU E., Aydin R., Yapici Z.

BEZMIALEM SCIENCE, cilt.7, sa.3, ss.215-220, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.14235/bas.galenos.2018.2847
  • Dergi Adı: BEZMIALEM SCIENCE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.215-220
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Among the hypomyelinating diseases of childhood, Pellizeus Merzhachcr disease (PMD) is caused by X-linked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene-called Pelizaues Merzbacher-like disease (PMLD) have recessive gap junction protein alpha 12 (gap junction alpha-12/gap junction gamma-2) gene mutations. The aim of this study was to evaluate clinical severity and progression in time in patients with PMD and PMLD.