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GENATLAS PHENOTYPE

last update : 18-05-2018

Symbol	DICMTC
Location	1p35.1
Name	Charcot-Marie-Tooth, dominant intermediate C
Corresponding gene	YARS
Other symbol(s)	DI-CMTC, CMTDIC
Main clinical features	onset in the first and second decades, with distal leg and arm weakness and numbness motor nerve conduction velocities (NCV) ranged from 30-40 m/s. and sural nerve biopsies showed clusters of regenerating fibers and reduction in fiber density and myelin thickness, but no onion bulb formations
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)