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Pelizaeus–Merzbacher Disease: the First Genetically Approved Case Report from Iran

BACKGROUND: Classic Pelizaeus-Merzbacher disease is a rare x-linked disorder of proteolipid protein expression first described clinically in 1885. This disease is characterized by abnormal eye movements, very slow motor development and involuntary movements. The causative gene is PLP1. CASE PRESENTA...

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Detalles Bibliográficos
Autores principales:	Ashrafi, Mahmoud-Reza, Mohammadi, Mahmoud, Alizadeh, Hooman, Nikkhah, Ali
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Tehran University of Medical Sciences 2011
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446186/ https://www.ncbi.nlm.nih.gov/pubmed/23056820

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