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last update : 10-05-2014
Symbol AMCD1B
Location 12q23.2
Name arthrogryposis multiplex congenita, distal, type 1B
Other name(s) arthrogryposis, distal, type 1B
Corresponding gene MYBPC1
Other symbol(s) DA1B
Main clinical features
  • contractures that are limited to the hands and feet with no additional anomalies
  • variable expressivity, including clubfoot, vertical talus, camptodactyly, overriding fingers, ulnar deviation of the fingers
  • Genetic determination autosomal dominant
    Related entries approximately one in 10 000 individuals
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . K240Q and E248K missense mutants associated with reduced or absent localization to the sarcomere