Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode

Chorea-acanthocytosis (ChAc) is a rare neurodegenerative movement disorder with variable clinical features, including movement disorders, cognitive decline, myopathy, neuropathy, behavioral changes, seizures and acanthocytosis. The majority of ChAc patients display an autosomal recessive mode of inh...

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Hlavní autoři:	Fang Yi, Wenwen Li, Nina Xie, Yafang Zhou, Hongwei Xu, Qiying Sun, Lin Zhou
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2018-07-01
Edice:	Frontiers in Neurology
Témata:	chorea-acanthocytosis VPS13A genetic variation mutation case report
On-line přístup:	https://www.frontiersin.org/article/10.3389/fneur.2018.00594/full
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