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GENATLAS PHENOTYPE

last update : 03-06-2014

Symbol	RICMTC
Location	1p36.31
Name	Charcot-Marie-Tooth disease, recessive intermediate C
Corresponding gene	PLEKHG5
Other symbol(s)	CMTRIC
Main clinical features	peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy sural nerve biopsy show mixed features of demyelinating and axonal neuropathy age at onset and the severity of the disease are variable
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)