Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygo...

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Detalles Bibliográficos
Autores principales: Santos, Mariana, Damásio, Joana, Kun-Rodrigues, Célia, Barbot, Clara, Sequeiros, Jorge, Brás, José, Alonso, Isabel, Guerreiro, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230264/
https://www.ncbi.nlm.nih.gov/pubmed/32340215
http://dx.doi.org/10.3390/jcm9041212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230264/
https://www.ncbi.nlm.nih.gov/pubmed/32340215
http://dx.doi.org/10.3390/jcm9041212

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