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Developmental demands contribute to early neuromuscular degeneration in CMT2D mice

Dominantly inherited, missense mutations in the widely expressed housekeeping gene, GARS1, cause Charcot-Marie-Tooth type 2D (CMT2D), a peripheral neuropathy characterised by muscle weakness and wasting in limb extremities. Mice modelling CMT2D display early and selective neuromuscular junction (NMJ...

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Detalles Bibliográficos
Autores principales:	Sleigh, James N., Mech, Aleksandra M., Schiavo, Giampietro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378196/ https://www.ncbi.nlm.nih.gov/pubmed/32703932 http://dx.doi.org/10.1038/s41419-020-02798-y

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