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GENATLAS PHENOTYPE

last update : 13-04-2016

Symbol	CMT2CC
Location	22q12.2
Name	Charcot-Marie-Tooth disease, axonal, type 2CC
Corresponding gene	NEFH
Main clinical features	progressive lower-limb weakness, sensory loss in the feet, and occasional cramps. He started using support for walking in his early 20 years and began using a wheelchair in his mid-20 years
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

frameshift variants in NEFH in two multigenerational families affected by autosomal-dominant CMT2 (CMT2T) (PMID: 27040688)) cryptic amyloidogenic elements (CAEs) encoded by the 3′ UTR of NEFH lead to aggregation and neuronal degeneration in affected individuals (PMID: 27040688))