Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Abstract Homozygous mutations in MAG, encoding the myelin‐associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia. Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R)...

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Bibliographic Details
Main Authors: Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaers
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50860

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https://doi.org/10.1002/acn3.50860

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