Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP- predominant)

A postsynaptic dysfunction of the neuromuscular junction has been reported in patients with alpha-dystroglycanopathy associated with mutations in guanosine diphosphate (GDP)-mannose pyrophosphorylase B gene (GMPPB), some of whom benefit from symptomatic treatment. In this study, we determine the fre...

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Detalles Bibliográficos
Autores principales: Gonzalez-Perez, Paloma, Smith, Cheryl, Sebetka, Wendy L., Gedlinske, Amber, Perlman, Seth, Mathews, Katherine D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7778731/
https://www.ncbi.nlm.nih.gov/pubmed/32115343
http://dx.doi.org/10.1016/j.nmd.2020.01.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7778731/
https://www.ncbi.nlm.nih.gov/pubmed/32115343
http://dx.doi.org/10.1016/j.nmd.2020.01.002

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