Pathology
mutations in Pelizaeus-Merzbacher disease (PMD)
mutations in X-linked dysmyelinating neuropathy
The mutations found are very varied, ranging from deletions, loss-of-function and missense mutations to additional copies of the gene.
References
Yool DA, Edgar JM, Montague P, Malcolm S. The proteolipid protein gene and myelin disorders in man and animal models. Hum Mol Genet. 2000 Apr 12;9(6):987-92. PMID: 10767322
Woodward K, Malcolm S. Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. Trends Genet. 1999 Apr;15(4):125-8. PMID: 10203813