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Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Despite recent scientific advances, most rare genetic diseases — including most neuromuscular diseases — do not currently have curative gene-based therapies available. However, in some cases, such as vitamin, cofactor or enzyme deficiencies, channelopathies and disorders of the neuromuscular junctio...

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Detalles Bibliográficos
Autores principales:	Thompson, Rachel, Bonne, Gisèle, Missier, Paolo, Lochmüller, Hanns
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2019
Materias:	Review Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436731/ https://www.ncbi.nlm.nih.gov/pubmed/30931400 http://dx.doi.org/10.1042/ETLS20180100

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