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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2013
Symbol NAMSD
Location Xq26.1
HGNC id 7635
Name axonal motor-sensory neuropathy, with deafness and mental retardation
Other name(s)
  • Charcot-Marie-Tooth neuropathy, recessive 4
  • Charcot-Marie-Tooth with deafness and mental retardation
  • Cowchock syndrome
  • Corresponding gene AIFM1
    Other symbol(s) AMSN, CMTX4
    Main clinical features
  • distal weakness, muscle atrophy, sensory loss, areflexia, pes cavus, and hammer toes, deafness, mental retardation or social developmental delay, with motor nerve conduction velocities in affected males normal to mildly delayed, and sensory conduction markedly abnormal
  • Genetic determination sex linked
    Function/system disorder neurology
    Type disease
    Remark(s) . missense mutation Glu493Val AIF has slight structural changes and an abnormal propensity to NADH reduction and O2 oxidation, probably because of changes in the FAD protonation state (PMID: 23217327))