Article
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
Movement disorders clinical practice - 1 Mar 2024
Percetti Marco, Zini Michela, Soliveri Paola, Cogiamanian Filippo, Ferrara Mariarosa, Orunesu Eva, Ranghetti Alessandra, Ferrarese Carlo, Pezzoli Gianni, Garavaglia Barbara, Isaias Ioannis Ugo, Sacilotto Giorgio
Abstract excerpt
BACKGROUND: Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood. CASES: We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years. She later developed a diffuse dystonic tremor and mild...
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