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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Hindawi Publishing Corporation
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348602/ https://www.ncbi.nlm.nih.gov/pubmed/25789183 http://dx.doi.org/10.1155/2015/453105 |