Charcot-Marie-Tooth Disease, Axonal, Type 2d (CMT2D)

Charcot-Marie-Tooth Disease, Axonal, Type 2d, also known as charcot-marie-tooth disease type 2d, is related to neuronopathy, distal hereditary motor, autosomal dominant 5 and charcot-marie-tooth hereditary neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2d is GARS1 (Glycyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include peripheral nerve, and related phenotypes are distal amyotrophy and scoliosis