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


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

BEZMIALEM SCIENCE, vol.7, pp.215-220, 2019 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.14235/bas.galenos.2018.2847
  • Title of Journal : BEZMIALEM SCIENCE
  • Page Numbers: pp.215-220

Abstract

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.