Article

Should we Investigate Mitochondrial Disorders in Progressive Adult-onset Undetermined Ataxias?

2020-08-14

Abstract excerpt

<h4>Background: </h4> Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expensive clinical challenge. Case presentation: In this article, we report a Brazilian man with adult-onset slow...

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Literature Corpus work: cbb0c898-1256-5e0f-b3a6-7ca796e615ac
DOI: 10.21203/rs.3.rs-57401/v1

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