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

18 Oct 2021

Abstract excerpt

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 patients in the Chinese population. METHODS: Fifty-four Chinese index patients with unexplained autosomal recessive or sporadic...

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PMID: 34663476
DOI: 10.1186/s40035-021-00264-z

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