A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response...

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Detalles Bibliográficos
Autores principales: Lu, Yongping, Shimojima, Keiko, Sakuma, Tomoko, Nakaoka, Sachiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214593/
https://www.ncbi.nlm.nih.gov/pubmed/28101371
http://dx.doi.org/10.1038/hgv.2016.44

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214593/
https://www.ncbi.nlm.nih.gov/pubmed/28101371
http://dx.doi.org/10.1038/hgv.2016.44

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