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GENATLAS PHENOTYPE

last update : 25-01-2011

Symbol	CMT4J
Location	6q21
Name	Charcot-Marie-Tooth disease, type J
Corresponding gene	FIG4
Main clinical features	congenital hypomyelinating neuropathy onset occurred within the first 2 years of life with delayed walking, unsteady gait, areflexia, scoliosis, and foot abnormalities, including pes cavus and pes equinus electrophysiologic studies showed severely reduced motor and sensory nerve conduction velocities, consistent with a demyelinating process asymmetric, rapidly progressive paralysis (PMID: 18556664))
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)