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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.[1]

References

  1. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Almasy, L., Bressman, S.B., Raymond, D., Kramer, P.L., Greene, P.E., Heiman, G.A., Ford, B., Yount, J., de Leon, D., Chouinard, S., Saunders-Pullman, R., Brin, M.F., Kapoor, R.P., Jones, A.C., Shen, H., Fahn, S., Risch, N.J., Nygaard, T.G. Ann. Neurol. (1997) [Pubmed]
 
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