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Disease relevance of Arthrogryposis


High impact information on Arthrogryposis


Chemical compound and disease context of Arthrogryposis

  • Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function [9].
  • We report on clinical evaluations of Brazilian patients with misoprostol-induced arthrogryposis [10].
  • We have previously shown that rats are not susceptible and rabbits only weakly susceptible to coniine-induced arthrogryposis [11].
  • Aerobic and anaerobic metabolism of the musculus extensor carpi radialis and the musculus flexor digitorum superficialis in calves with arthrogryposis multiplex congenita (AMC) of both forelimbs [12].
  • The number of alpha-motoneurons in the spinal cord segments C6 to Th2 of five calves with Arthrogryposis Multiplex Congenita (AMC) and of five normal calves was compared [13].

Biological context of Arthrogryposis


Anatomical context of Arthrogryposis


Gene context of Arthrogryposis


  1. Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis). Nonaka, I., Kikuchi, A., Suzuki, T., Esaki, K. Exp. Neurol. (1986) [Pubmed]
  2. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. van der Vleuten, A.J., van Ravenswaaij-Arts, C.M., Frijns, C.J., Smits, A.P., Hageman, G., Padberg, G.W., Kremer, H. Eur. J. Hum. Genet. (1998) [Pubmed]
  3. Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. Swoboda, K.J., Specht, L., Jones, H.R., Shapiro, F., DiMauro, S., Korson, M. J. Pediatr. (1997) [Pubmed]
  4. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. Bull, L.N., Mahmoodi, V., Baker, A.J., Jones, R., Strautnieks, S.S., Thompson, R.J., Knisely, A.S. J. Pediatr. (2006) [Pubmed]
  5. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. Brownlow, S., Webster, R., Croxen, R., Brydson, M., Neville, B., Lin, J.P., Vincent, A., Newsom-Davis, J., Beeson, D. J. Clin. Invest. (2001) [Pubmed]
  6. Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene. Bingham, P.M., Shen, N., Rennert, H., Rorke, L.B., Black, A.W., Marin-Padilla, M.M., Nordgren, R.E. Neurology (1997) [Pubmed]
  7. Lethal congenital contracture syndrome: further delineation and genetic aspects. Vuopala, K., Herva, R. J. Med. Genet. (1994) [Pubmed]
  8. Molecular basis of intrahepatic cholestasis. Carlton, V.E., Pawlikowska, L., Bull, L.N. Ann. Med. (2004) [Pubmed]
  9. Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. Riemersma, S., Vincent, A., Beeson, D., Newland, C., Hawke, S., Vernet-der Garabedian, B., Eymard, B., Newsom-Davis, J. J. Clin. Invest. (1996) [Pubmed]
  10. Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Coelho, K.E., Sarmento, M.F., Veiga, C.M., Speck-Martins, C.E., Safatle, H.P., Castro, C.V., Niikawa, N. Am. J. Med. Genet. (2000) [Pubmed]
  11. Comparison of nicotinic receptor binding and biotransformation of coniine in the rat and chick. Forsyth, C.S., Speth, R.C., Wecker, L., Galey, F.D., Frank, A.A. Toxicol. Lett. (1996) [Pubmed]
  12. Aerobic and anaerobic metabolism of the musculus extensor carpi radialis and the musculus flexor digitorum superficialis in calves with arthrogryposis multiplex congenita (AMC) of both forelimbs. van Huffel, X., van den Hende, C., de Moor, A. Zentralblatt für Veterinärmedizin. Reihe A. (1986) [Pubmed]
  13. Decreased number of alpha-motoneurons in the cervical intumescence of calves with arthrogryposis multiplex congenita of both thoracic limbs. Van Huffel, X., Weyns, A., Van Nassauw, L., Cockelbergh, D., De Moor, A. Vet. Res. Commun. (1988) [Pubmed]
  14. Absence of arthrogryposis in newborn Hampshire pigs from sows ingesting toxic levels of jimsonweed during gestation. Keeler, R.F. Veterinary and human toxicology. (1981) [Pubmed]
  15. Trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency. Schwärzler, P., Moscoso, G., Bernard, J.P., Hill, L., Senat, M.V., Ville, Y. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1999) [Pubmed]
  16. Effect of coniine on the developing chick embryo. Forsyth, C.S., Frank, A.A., Watrous, B.J., Bohn, A.A. Teratology (1994) [Pubmed]
  17. Hyperthermia during sevoflurane anaesthesia in arthrogryposis multiplex congenita with central nervous system dysfunction. Kanaya, N., Nakayama, M., Nakae, Y., Kobayashi, I., Tsuchida, H., Namiki, A. Paediatric anaesthesia. (1996) [Pubmed]
  18. Pectoralis major transplantation to restore elbow flexion to the paralytic limb. Carroll, R.E., Kleinman, W.B. The Journal of hand surgery. (1979) [Pubmed]
  19. A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex. Al-Gazali, L.I., Bakir, M., Hamid, Z.M., Nair, D.K., Haas, D., Amirlak, I., Rushdi, A. Clin. Dysmorphol. (2000) [Pubmed]
  20. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. North, K.N., Beggs, A.H. Neuromuscul. Disord. (1996) [Pubmed]
  21. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Krakowiak, P.A., Bohnsack, J.F., Carey, J.C., Bamshad, M. Am. J. Med. Genet. (1998) [Pubmed]
  22. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Shrimpton, A.E., Hoo, J.J. European journal of medical genetics. (2006) [Pubmed]
  23. Mitochondrial mutation in a child with distal arthrogryposis. McPherson, E., Zabel, C. Am. J. Med. Genet. A (2006) [Pubmed]
  24. Congenital absence of pyramids and its significance in genetic diseases. Chow, C.W., Halliday, J.L., Anderson, R.M., Danks, D.M., Fortune, D.W. Acta Neuropathol. (1985) [Pubmed]
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