| Literature DB >> 15390074 |
Paolo Moretti1, Peter Hedera, John Wald, John Fink.
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.Entities:
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Year: 2005 PMID: 15390074 DOI: 10.1002/mds.20228
Source DB: PubMed Journal: Mov Disord ISSN: 0885-3185 Impact factor: 10.338