Article
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2002
Zorzi Giovanna, Garavaglia Barbara, Invernizzi Federica, Girotti Floriano, Soliveri Paola, Zeviani Massimo, Angelini Lucia, Nardocci Nardo
Abstract excerpt
Thirty Italian patients with sporadic, early-onset, primary dystonia were screened for the DYT1 mutation. Five patients were positive (mean age at onset, 8 years); two had the typical phenotype, two a generalised dystonia also involving the cranial muscles, and one a segmental dystonia. In the other 25 patients (mean age at onset, 7.7 years), dystonia was generalised in 22 patients and remained segmental in...
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