Article

Sensory neuron fate is developmentally perturbed by <i>Gars</i> mutations causing human neuropathy

2016-08-25

Abstract excerpt

Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, housekeeping gene, GARS . The mechanisms underlying selective nerve pathology in CMT2D remain unresolved, as does the cause of the mild-to-moderate sensory involvement that distinguishes CMT2D from the allelic disorder distal spinal muscular atrophy type V. To e...

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Literature Corpus work: a59c9747-940d-5f46-bcfc-7d20c5ea034e
DOI: 10.1101/071159

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