Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testi...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Schorling, David C., Rost, Simone, Lefeber, Dirk J., Brady, Lauren, Müller, Clemens R., Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G., Rodenburg, Richard J., Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5562963/
https://ncbi.nlm.nih.gov/pubmed/28733338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004234
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