Article
A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
Brain & development - 1 Mar 2017
Pavlidou Efterpi, Ramachandran Vijaya, Govender Veronica, Wilson Clare, Das Rini, Vlachou Victoria, Pavlou Evangelos, Saggar Anand, Mankad Kshitij, Kinali Maria
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve...
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