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GENATLAS PHENOTYPE

last update : 13-04-2016

Symbol	CMT4F
Location	19q13.2
Name	Charcot-Marie-Tooth disease, demyelinating, type 4 F
Corresponding gene	PRX
Main clinical features	early onset but slow or no progression clumsy gait, distal muscle weakness of the upper and lower extremities, areflexia, and sensory ataxia, peripheral neuropathy below the knees and pes cavus sural nerve biopsy showed severe loss of myelinated fibers of all diameters, small onion bulb formations, and focally folded myelin
Genetic determination	autosomal recessive
Related entries	including Dejerine-Sottas neuropathy
Function/system disorder	neurology
Type	disease

Gene product

Name

periaxin

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		abnormal protein/loss of function	R1070X mutation resulting of a mutation hot spot

Remark(s)