Article

Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis

2020-07-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Neuroacanthocytosis (NA) syndromes are a group of exceedingly rare diseases, including McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc). The characteristic phenotypes comprise a variety of movement disorders, including chorea, dystonia, and parkinsonism. We aimed to investigate the clinical heterogeneity and novel pathogenic variants of Chinese patients wi...

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Literature Corpus work: c35222b2-53a1-529e-839e-1227bb4f1144
DOI: 10.21203/rs.3.rs-23935/v2

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