Rare Case of Female with Pelizaeus Mertzbacher Disease due to deletion of Proteolipid Protein 1: A Case Report

Pelizaeus Merzbacher Disease is a rare X-linked central nervous system disease involving the proteolipid protein 1 gene. Patients exhibit signs for instance nystagmus, hypotonia, ataxia. We report a three-year-old female patient with chief compliant of developmental delay. On physical examination, p...

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Detalles Bibliográficos
Autores principales: Kinoshita, Masanosuke, Roston, William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827597/
https://www.ncbi.nlm.nih.gov/pubmed/31065145
http://dx.doi.org/10.31729/jnma.3824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827597/
https://www.ncbi.nlm.nih.gov/pubmed/31065145
http://dx.doi.org/10.31729/jnma.3824

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