We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.
C0011195
Dejerine-Sottas Disease (disorder)