Article
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
American journal of medical genetics - 15 Jan 1999
Hodes M E, Zimmerman A W, Aydanian A, Naidu S, Miller N R, Garcia Oller J L, Barker B, Aleck K A, Hurley T D, Dlouhy S R
Abstract excerpt
Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2) comprises a spectrum of diseases that range from severe to quite mild. The reasons for the variation in severity are not obvious, but suggested explanations include the extent of disruption of the transmembrane portion of the proteolipid protein caused by certain amino acid substitutions and interference with the trafficking of the PLP molecule...
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