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GENATLAS PHENOTYPE

last update : 17-01-2015

Symbol	CMT2R
Location	4q31.3
Name	Charcot-Marie-Tooth disease, type 2R
Corresponding gene	TRIM2
Main clinical features	early-onset axonal peripheral neuropathy with delayed motor development, generalized hypotonia, thin build with small muscle mass, atrophy of the small muscles in the hands and feet, and areflexia, pes cavus electrophysiologic studies showed polyneuropathy of the upper and lower limbs, with decreased motor nerve conduction velocities and decreased sensory and motor amplitudes
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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