Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)

The PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in PLP1 cause a spectrum of white matter disorders of variable severity. Here we report on four additional HEMS patients from three families harboring three novel PLP1 mutations in exon 3B de...

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Detalles Bibliográficos
Autores principales: Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828325/
https://www.ncbi.nlm.nih.gov/pubmed/33450882
http://dx.doi.org/10.3390/brainsci11010093

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828325/
https://www.ncbi.nlm.nih.gov/pubmed/33450882
http://dx.doi.org/10.3390/brainsci11010093

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