Article
Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
Genes, brain, and behavior - 1 Feb 2017
Villalón E, Jones M R, Sibigtroth C, Zino S J, Dale J M, Landayan D S, Shen H, Cornelison D D W, Garcia M L
Abstract excerpt
Charcot-Marie-Tooth (CMT) is the most common inherited peripheral neuropathy, affecting approximately 2.8 million people. The CMT leads to distal neuropathy that is characterized by reduced motor nerve conduction velocity, ataxia, muscle atrophy and sensory loss. We generated a mouse model of CMT type 2E (CMT2E) expressing human neurofilament light E396K (hNF-LE396K ), which develops decreased motor nerve...
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