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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2019
Ábhair:
Brief Communications
Rochtain Ar Líne: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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