A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease.
The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes.
There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.. 
