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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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Brief Communications
Accesso online: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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