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Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
Joint Authors
Sum, John
Brender, Teva
Wallerstein, Donna
Wallerstein, Robert J.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-02-18
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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 females reported in the medical literature with a variety of different mutations in this gene.
No affected females to date have a deletion like our patient.
In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.
American Psychological Association (APA)
Brender, Teva& Wallerstein, Donna& Sum, John& Wallerstein, Robert J.. 2015. Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1058509
Modern Language Association (MLA)
Brender, Teva…[et al.]. Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene. Case Reports in Genetics No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1058509
American Medical Association (AMA)
Brender, Teva& Wallerstein, Donna& Sum, John& Wallerstein, Robert J.. Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1058509
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058509