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GENATLAS PHENOTYPE

last update : 17-07-2017

Symbol	CMT2X
Location	15q21.1
Name	Charcot-Marie-Tooth disease, axonal, type 2X
Corresponding gene	SPG11
Main clinical features	slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties age at disease onset was 11.4 years (range, 4-35) and there was phenotypic variability EMG showed evidence of chronic denervation/renervation, and sural nerve biopsies showed loss of large-caliber myelinated fibers
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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