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GENATLAS PHENOTYPE

last update : 17-07-2017

Symbol	CMT2Z
Location	22q12.2
Name	Charcot-Marie-Tooth disease, axonal, type 2Z
Corresponding gene	MORC2
Main clinical features	onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment; disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood progressive walking difficulties due to distal and later proximal muscle weakness and atrophy as well as distal sensory impairment
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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