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References OMIM Gene GeneReviews HGMD HGNC
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
  • 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))