A novel de novo RNF216 mutation associated with autosomal recessive Huntington‐like disorder

Mutations in RNF216 have been found to be associated with autosomal recessive Huntington‐like disorder. Here, we describe a patient with Huntington‐like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face...

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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: Chen, Ke‐Liang, Zhao, Gui‐Xian, Wang, He, Wei, Lei, Huang, Yu‐Yuan, Chen, Shi‐Dong, Lin, Bi‐Ying, Dong, Qiang, Cui, Mei, Yu, Jin‐Tai
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Brief Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7261743/
https://ncbi.nlm.nih.gov/pubmed/32358900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51047
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