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Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot–Marie–Tooth Type 2d

Patients with Charcot–Marie–Tooth Type 2D (CMT2D), caused by dominant mutations in Glycl tRNA synthetase (GARS), present with progressive weakness, consistently in the hands, but often in the feet also. Electromyography shows denervation, and patients often report that early symptoms include cramps...

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Dades bibliogràfiques
Publicat a:J Neurosci
Autors principals: Spaulding, Emily L., Sleigh, James N., Morelli, Kathryn H., Pinter, Martin J., Burgess, Robert W., Seburn, Kevin L.
Format: Artigo
Idioma:Inglês
Publicat: Society for Neuroscience 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4792937/
https://ncbi.nlm.nih.gov/pubmed/26985035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1762-15.2016
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