NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; an...

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Main Authors: Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-08-01
Series:Frontiers in Genetics
Subjects:
NKX2-1 gene
NKX2-1 related disorders
benign hereditary chorea
brain-lung-thyroid syndrome
chorea
myoclonus dystonia
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00335/full

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