Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Abstract Background Although many causative genes have been uncovered in recent years, genetic diagnosis is still missing for approximately 50% of autosomal recessive cerebellar ataxia (ARCA) patients. Few studies have been performed to determine the genetic spectrum and clinical profile of ARCA pat...

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Bibliographic Details
Main Authors: Hao-Ling Cheng, Ya-Ru Shao, Yi Dong, Hai-Lin Dong, Lu Yang, Yin Ma, Ying Shen, Zhi-Ying Wu
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Translational Neurodegeneration
Subjects:
Autosomal recessive cerebellar ataxias
Chinese
Genetic spectrum
Structural variation
Clinical features
Online Access:https://doi.org/10.1186/s40035-021-00264-z

Internet

https://doi.org/10.1186/s40035-021-00264-z

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