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Mov Disord. 2005 Feb;20(2):245-7.

Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.

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  • 1Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.

Abstract

We describe the clinical features of a brother and sister with non-dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2).

Copyright 2004 Movement Disorder Society.

PMID:
15390074
[PubMed - indexed for MEDLINE]
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