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GENATLAS PHENOTYPE

last update : 05-12-2008

Symbol	CMT1F
Location	8p21.2
Name	Charcot-Marie-Tooth disease type 1F
Corresponding gene	NEFL
Main clinical features	onset in infancy or childhood (range 1 to 13 years), with distal limb muscle weakness and atrophy, worse in the lower limbs, distal sensory loss, diminished reflexes, pes cavus, and reduced motor nerve conduction velocity (NCV) at nerve biopsy, loss of myelinated fibers, onion bulb formation, irregular myelin foldings, and clusters of axonal regeneration
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)

Pro22Arg, or Pro22Thr associated to CMT1F NEFL mutations cause a profound alteration of the cytoskeleton possibly related to defective targeting of neurofilament