CMT2DCharcot-Marie-Tooth Disease, Axonal, Type 2D
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Pathogenic variants in the GARS gene are associated with two allelic subtypes: Charcot-Marie-Tooth Type 2D (CMT2D) and distal hereditary motor neuropathy type V (dHMN-V) also known as spinal muscular atrophy type Va (dSMA-Va).
Abbreviations BSCL2: Berardinelli-Seip congenital lipodystrophy CMT2D: Charcot-Marie-Tooth 2D DCTN1: Dynactin subunit 1 dHMN: Distal hereditary motor neuropathies dSMA-V: Distal spinal muscular atrophy type V dSMA-Va: Distal spinal muscular atrophy type Va EMG: Electromyography ETC: Mitochondrial respiratory chain enzyme analysis GARS: Glycyl tRNA synthetase IGHMBP2: Immunoglobulin [mu]-binding protein-2 L: Leucine R: Arginine SETX: Senataxin sHSP: Small heat shock proteins SMA: Spinal muscular atrophy RSV: Respiratory syncytial virus VUS: Variant of unknown significance WES: Whole exome sequencing.
CMT2D (dSMA-V) 7p14 GARS CMT2E 8p21 NEFL CMT2F 7q11-q21 ?