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- Title
A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.
- Authors
Pereira, Pedro; Guerreiro, Andreia; Fonseca, Maria; Halpern, Cristina; Pinto‐Basto, Jorge; Monteiro, José P.
- Abstract
The article presents a case study of five-year-old boy with a normal early psychomotor development, and he manifested a rapid-onset course of left brachial-predominant dystonia with a fixed flexion posture of the forearm and fingers at age three years old. It states that the ATP1A3 gene of the boy was sequenced and a new heterozygous mutation was diagnosed. He was treated with oral flunarizine.
- Subjects
PHENOTYPES; HETEROZYGOSITY; MOTOR ability in children
- Publication
Movement Disorders Clinical Practice, 2016, Vol 3, Issue 4, p398
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.12263