Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia

Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central nervous system (CNS)—a rare disorder that especially concerns males. Its estimated prevalence is 1.45–1.9 per 100,000 individuals in the general population. Patients affected by PMD exhibit a drastic reduction or...

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Detalles Bibliográficos
Autores principales: Khalaf, Guy, Mattern, Claudia, Begou, Mélina, Boespflug-Tanguy, Odile, Massaad, Charbel, Massaad-Massade, Liliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313024/
https://www.ncbi.nlm.nih.gov/pubmed/35885014
http://dx.doi.org/10.3390/biomedicines10071709

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313024/
https://www.ncbi.nlm.nih.gov/pubmed/35885014
http://dx.doi.org/10.3390/biomedicines10071709

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