Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

@article{Meyer2011PromoterMI,
  title={Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.},
  author={E. F. Meyer and Manju A. Kurian and Neil V Morgan and Alisdair McNeill and Shanaz S Pasha and Louise Tee and R. Younis and Andrew Norman and Marjo S. van der Knaap and Evangeline Wassmer and Richard C Trembath and Louise Brueton and Eamonn R Maher},
  journal={Molecular genetics and metabolism},
  year={2011},
  volume={104 4},
  pages={637-43}
}
Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity. We undertook autozygosity mapping studies in a large consanguineous family of Pakistani origin in which affected children had progressive lower limb spasticity and features of… CONTINUE READING