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GENATLAS PHENOTYPE

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