Models of distal arthrogryposis and lethal congenital contracture syndrome

Julia Whittle, Aaron Johnson, Matthew B. Dobbs, Christina A. Gurnett

Research output: Contribution to journalArticlepeer-review

Abstract

Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. While skeletal muscle sarcomeric genes comprise many of the first genes identified for Distal Arthrogyposis, other mechanisms of disease have been demonstrated, including key effects on peripheral nerve function. While Distal Arthrogryposis and Lethal Congenital Contracture Syndromes display superficial similarities in phenotype, the underlying mechanisms for these conditions are diverse but overlapping. In this review, we discuss the important insights gained into these human genetic diseases resulting from in vitro molecular studies and in vivo models in fruit fly, zebrafish, and mice.

Original languageEnglish
Article number943
JournalGenes
Volume12
Issue number6
DOIs
StatePublished - Jun 2021

Keywords

  • Arthrogryposis
  • Congenital
  • Contracture

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