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last update : 27-08-2012
Symbol CMT2D
Location 7p14.3
Name Charcot-Marie-Tooth disease, axonal, type 2D
Other name(s)
  • hereditary sensory and autonomic neuropathy, type 2
  • Charcot-Marie-Tooth neuropathy type 2D
  • . distal spinal muscular atrophy type V
  • Corresponding gene GARS
    Other symbol(s) HSAN2
    Main clinical features
  • characterized by distal muscle weakness and amyotrophy, sensory loss, decreased or absent tendon reflexes, with normal nerve conduction velocity
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name glycyl-tRNA synthetase
    Remark(s) mutations in the catalytic domain , within the conserved regions shared by human and T. thermophilus GlyRS, leading to a change in the surfaces at the dimer interface and to defect in localization