Article
Neurogenetics of Pelizaeus-Merzbacher disease.
Handbook of clinical neurology - 1 Jan 2018
Osório M Joana, Goldman Steven A
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination associated with early neurologic dysfunction, progressive deterioration, and ultimately death....
Topics
- Humans
- Mutation
- Myelin Proteolipid Protein
- Pelizaeus-Merzbacher Disease