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GENATLAS PHENOTYPE

last update : 05-12-2016

Symbol	CMT4K
Location	9q34.2
Name	Charcot-Marie-Tooth disease type 4K
Corresponding gene	SURF1
Main clinical features	demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation; both upper and lower limbs are affected; also nystagmus and late-onset cerebellar ataxia electrophysiologic studies showed severely decreased nerve conduction velocities consistent with a demyelinating neuropathy; peroneal nerve biopsy showed axonal loss and hypomyelinated fibers
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)