Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

BACKGROUND: A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an u...

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Detalhes bibliográficos
Publicado no:J Neurol Neurosurg Psychiatry
Main Authors: Finlayson, Sarah, Palace, Jacqueline, Belaya, Katsiaryna, Walls, Timothy J, Norwood, Fiona, Burke, Georgina, Holton, Janice L, Pascual-Pascual, Samuel I, Cossins, Judith, Beeson, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6044426/
https://ncbi.nlm.nih.gov/pubmed/23447650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-304716
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