Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion.


We report herein a case of 2-year-old boy diagnosed with a mild form of Pelizaeus-Merzbacher disease due to deletion of the entire proteolipid protein 1 (PLP1) gene. The patient demonstrated spastic quadriplegia, mental retardation, and microcephaly. He exhibited brainstem auditory evoked potentials with prolonged interpeak latencies and magnetic resonance… (More)
DOI: 10.1016/j.braindev.2012.02.006


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