These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Author: Yamamoto T, Shimojima K.
    Journal: Congenit Anom (Kyoto); 2013 Mar; 53(1):3-8. PubMed ID: 23480352.
    Abstract:
    Pelizaeus-Merzbacher disease (PMD) is a congenital hypomyelination disorder caused by alterations affecting the proteolipid protein 1 gene (PLP1) located on Xq22.2. Generally, patients with PLP1 missense mutations show the most severe form of PMD (connatal form); however, two-thirds of patients with PMD carry PLP1 duplications and present typical manifestations of the disorder, recognized as the classical form. Other rare PLP1 abnormalities have been also identified, including X-chromosome translocations, triplications, and a partial duplication, all involving PLP1. The genomic structure of the distal end of the PLP1 locus, characterized by repeated genomic segments, contributes to the chromosomal rearrangements around PLP1 and the manifestation of PMD. Thus, PMD is recognized as a chromosomal disorder.
    [Abstract] [Full Text] [Related] [New Search]