Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five s...

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Bibliographic Details
Main Author: Nivedita U. Jerath
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2022/7492077
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