Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.


We present the case of a 26 year-old man who developed normally until he began having difficulty walking at age 12. He subsequently became unable to stand at 15 years old and exhibited mental regression and generalized tonic convulsions by age 20. Magnetic resonance imaging revealed incomplete myelination of cerebral white matter, which resembled that of… (More)
DOI: 10.1016/j.braindev.2009.11.004


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