Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease

CASE PRESENTATION: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it...

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Detalles Bibliográficos
Autores principales: Velasco Parra, Harvy Mauricio, Maradei Anaya, Silvia Juliana, Acosta Guio, Johanna Carolina, Arteaga Diaz, Clara Eugenia, Prieto Rivera, Juan Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084915/
https://www.ncbi.nlm.nih.gov/pubmed/30104812
http://dx.doi.org/10.25100/cm.v49i2.2522

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084915/
https://www.ncbi.nlm.nih.gov/pubmed/30104812
http://dx.doi.org/10.25100/cm.v49i2.2522

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