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GENATLAS PHENOTYPE
last update : 10-05-2017
Symbol AMCN3
Location 6q25.2
Name arthrogryposis multiplex congenita neurogenic 3
Corresponding gene SYNE1
Main clinical features
  • bilateral clubfoot, decreased fetal movements, delay in motor milestones, then progressive motor decline after the first decade
  • mild facial weakness without ophtalmoplegia, deep reflexes were absent; neither pyramidal nor cerebellar involvement was noticed, intelligence normal and CK level normal
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . mutation results in an aberrant retention of intron 136 of SYNE1 RNA leading to premature stop codons and the lack of the C-terminal transmembrane domain KASH (Attali 2009)