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last update : 12-04-2018
Symbol DICMT1
Location 19p13.2
Name dominant intermediate Charcot-Marie-Tooth neuropathy 1
Other name(s) Charcot-Marie-Tooth, dominant intermediate B
Corresponding gene DNM2
Other symbol(s) DI-CMTB, CMTDI1, CMT2M, CMTDIB
Main clinical features progressive weakness and atrophy, initially of the peroneal muscles and later and later of the distal muscles of the arms and motor median NCVs ranging from 25 to 45 m/s
Genetic determination autosomal dominant
Related entries including CMT2M
Function/system disorder neurology
Type disease
Gene mutationChromosome rearrangementEffectComments
deletion   abnormal protein/loss of function deletion in the PH domain