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

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

Homozygous variants in <i>MAG</i>, 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 identifi...

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Bibliographic Details
Main Authors: Mariana Santos, Joana Damásio, Célia Kun-Rodrigues, Clara Barbot, Jorge Sequeiros, José Brás, Isabel Alonso, Rita Guerreiro
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:Journal of Clinical Medicine
Subjects:
cerebellar ataxia
myelin-associated glycoprotein
exome sequencing
Online Access:https://www.mdpi.com/2077-0383/9/4/1212

Internet

https://www.mdpi.com/2077-0383/9/4/1212

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