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Myoclonus-Dystonia Due to Maternal Uniparental Disomy

DOI

55

Citations

8

References

2008

Year

E. Guettard, Marie‐France Portnoï, K. Lohmann-Hedrich, Boris Keren, Sylvie Rossignol, Susen Winkler, Imen El Kamel, Smaranda Leu, Emmanuelle Apartis, Marie Vidailhet,
Archives of Neurology

Abstract

We identified a new genetic alteration-maternal chromosome 7 disomy-that can cause myoclonus-dystonia. This alteration results in repression of both alleles of the maternally imprinted SGCE gene and suggests SGCE loss of function as the disease mechanism.

References

YearCitations

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