Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

OBJECTIVES: Inherited defects of the neuromuscular junction (NMJ) comprise an increasingly diverse range of diseases. Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes (CMS). The beta-2 adrenergic receptor agonist salbutamol h...

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Detalles Bibliográficos
Autores principales: McMacken, Grace, Whittaker, Roger G., Wake, Ruth, Lochmuller, Hanns, Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188419/
https://www.ncbi.nlm.nih.gov/pubmed/36869887
http://dx.doi.org/10.1007/s00415-023-11643-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188419/
https://www.ncbi.nlm.nih.gov/pubmed/36869887
http://dx.doi.org/10.1007/s00415-023-11643-z

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