A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1
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Genetic variants in GARS1 gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two in cis missen... ...
