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

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) and earl...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Brief Communications
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6689693/
https://ncbi.nlm.nih.gov/pubmed/31402626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50860
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