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GENATLAS PHENOTYPE

last update : 01-10-2014

Symbol	DSMAX
Location	Xq21.1
Name	distal, spinal muscular atrophy, recessive
Corresponding gene	ATP7A
Other symbol(s)	SMAX3
Main clinical features	affecting lower and upper limbs, without cognitive, pyramidal or sensitive impairment, with reduced motor conduction velocity, normal nerve biopsy
Genetic determination	sex linked
Function/system disorder	neurology
Type	disease

Remark(s)

missense mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy, mutations inducing subtle defects in ATP7A intracellular trafficking resulting in preferential accumulation at the plasma membrane compared to wild-type ATP7A (PMID: 24754450))