Article
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Journal of the peripheral nervous system : JPNS - 1 Dec 2019
Lee Diana C, Dankwa Lois, Edmundson Christyn, Cornblath David R, Scherer Steven S
Abstract excerpt
The use and utility of targeted gene panels for diagnosing the type of Charcot-Marie-Tooth have grown rapidly because commercial gene panels that contain most of the relevant genes are available and affordable for many patients. We used a targeted gene panel to analyze 175 patients who had an unexplained axonal polyneuropathy affecting large myelinated axons, 86 of whom reported a family history of neuropathy,...
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