RAD51 haploinsufficiency causes congenital mirror movements in humans.

doi:10.1016/j.ajhg.2011.12.002

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

RAD51 haploinsufficiency causes congenital mirror movements in humans.

American journal of human genetics - 10 Feb 2012

Depienne Christel, Bouteiller Delphine, Méneret Aurélie, Billot Ségolène, Groppa Sergiu, Klebe Stephan, Charbonnier-Beaupel Fanny, Corvol Jean-Christophe, Saraiva Jean-Paul, Brueggemann Norbert, Bhatia Kailash, Cincotta Massimo, Brochard Vanessa, Flamand-Roze Constance, Carpentier Wassila, Meunier Sabine, Marie Yannick, Gaussen Marion, Stevanin Giovanni, Wehrle Rosine, Vidailhet Marie, Klein Christine, Dusart Isabelle, Brice Alexis, Roze Emmanuel

Abstract excerpt

Congenital mirror movements (CMM) are characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side. CMM reflect dysfunctions and structural abnormalities of the motor network and are mainly inherited in an autosomal-dominant fashion. Recently, heterozygous mutations in DCC, the gene encoding the receptor for netrin 1 and involved in the guidance of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DCC Receptor

Share to Dyskinesias

Share to Motor Cortex

Share to Movement Disorders

Share to Nerve Growth Factors

Share to Netrin-1

Share to Rad51 Recombinase

Source

Open in PubMed Open full text

Identifiers

PMID: 22305526
DOI: 10.1016/j.ajhg.2011.12.002
PMCID: PMC3276668

Genes

RAD51
DCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RAD51 haploinsufficiency causes congenital mirror movements in humans.PMID 22305526Read ↗

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.Semantic proximity Read ↗

Congenital mirror movements are associated with defective polymerisation of RAD51.Semantic proximity Read ↗

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.Semantic proximity Read ↗

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected IndividualsSemantic proximity Read ↗

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.Semantic proximity Read ↗

A human DCC variant causing mirror movement disorder reveals an essential role for the Wave regulatory complex in Netrin/DCC signalingSemantic proximity Read ↗

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.Semantic proximity Read ↗

A novel DCC mutation and genetic heterogeneity in congenital mirror movements.Semantic proximity Read ↗

Congenital mirror movements in a family: Outcomes associated with DCC mutations.Semantic proximity Read ↗

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.Semantic proximity Read ↗

Mutations in DCC Cause Congenital Mirror MovementsSemantic proximity Read ↗

Characterizing the phenotypes of congenital mirror movements and other rare genetic disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.