Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected female...

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Bibliographische Detailangaben
Veröffentlicht in:Case Rep Genet
Hauptverfasser: Brender, Teva, Wallerstein, Donna, Sum, John, Wallerstein, Robert
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi Publishing Corporation 2015
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4348602/
https://ncbi.nlm.nih.gov/pubmed/25789183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/453105
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