KEGG   DISEASE: H01287Help
Entry
H01287                      Disease                                

Name
Congenital mirror movements (CMM)
Description
Mirror movements 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 (CMM) 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 CMM patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous CMM.
Category
Nervous system disease
BRITE hierarchy
Pathway
Axon guidance
Homologous recombination
Gene
DCC [HSA:1630] [KO:K06765]
RAD51A [HSA:5888] [KO:K04482]
Other DBs
OMIM: 
Reference
  Authors
Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA
  Title
Mutations in DCC cause congenital mirror movements.
  Journal
Science 328:592 (2010)
Reference
  Authors
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
  Title
RAD51 haploinsufficiency causes congenital mirror movements in humans.
  Journal
Am J Hum Genet 90:301-7 (2012)

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