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Article

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

The Journal of neuroscience : the official journal of the Society for Neuroscience - 16 Mar 2016

Spaulding Emily L, Sleigh James N, Morelli Kathryn H, Pinter Martin J, Burgess Robert W, Seburn Kevin L

Abstract excerpt

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 brought on by cold or exertion. Based on reported clinical observations, and studies of mouse models of CMT2D, we...

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Identifiers

PMID: 26985035
DOI: 10.1523/JNEUROSCI.1762-15.2016
PMCID: PMC4792937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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