Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV.
Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E
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RAD51 haploinsufficiency causes congenital mirror movements in humans.
Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB
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Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D
タイトル
Mutations in the netrin-1 gene cause congenital mirror movements.
