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Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronicNKX2.1gene mutation

✍ Scribed by Konishi, Takashi; Kono, Satoshi; Fujimoto, Masaya; Terada, Tatsuhiro; Matsushita, Kozo; Ouchi, Yasuomi; Miyajima, Hiroaki


Book ID
118784457
Publisher
Springer
Year
2012
Tongue
English
Weight
515 KB
Volume
260
Category
Article
ISSN
0340-5354

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## Abstract Benign hereditary chorea (BHC) is a rare autosomal dominant nonprogressive movement disorder. In some cases the phenotype includes, besides choreoathetosis, thyroid dysfunction and pulmonary infections in infancy, as expressed by the name β€œBrain‐Thyroid‐Lung syndrome”. Mutations in the