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Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular B...
Santos, Mariana; Damásio, Joana; Kun-Rodrigues, Celia; Barbot, Clara; Sequeiros, Jorge; Brás, José; Alonso, Isabel; Guerreiro, RitaHomozygous 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 homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cere...
Date: 2020
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Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)