Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease.

Abstract

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on two large Han Chinese… (More)
DOI: 10.4238/2012.August.6.7

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Cite this paper

@article{Lv2012CombinedGA, title={Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease.}, author={Y. Lv and L. H. Cao and Hui Pang and Lun-gen Lu and J. L. Li and Y. Fu and S L Qi and Y. Luo and Jesse Li-Ling}, journal={Genetics and molecular research : GMR}, year={2012}, volume={11 3}, pages={2035-44} }