Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

Abstract Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. Methods We analyzed seven newly...

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Bibliographic Details
Main Authors: Quan-Fu Li, Hao‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
clinical features
gene dosage
homozygous
spinocerebellar ataxia type 3
Online Access:https://doi.org/10.1002/mgg3.1314

Internet

https://doi.org/10.1002/mgg3.1314

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