Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Aran, Adi, Segel, Reeval, Kaneshige, Kota, Gulsuner, Suleyman, Renbaum, Paul, Oliphant, Scott, Meirson, Tomer, Weinberg-Shukron, Ariella, Hershkovitz, Yair, Zeligson, Sharon, Lee, Ming K., Samson, Abraham O., Parsons, Stanley M., King, Mary-Claire, Levy-Lahad, Ephrat, Walsh, Tom
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/PMC5384838/
https://ncbi.nlm.nih.gov/pubmed/28188302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003720
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