Article

Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers

2020-05-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background：</bold>DYT1 dystonia is a neurological movement disorder characterized by painful sustained muscle contractions resulting in abnormal twisting and postures. In a subset of patients, it is caused by a loss-of-function mutation (ΔE302/303; or ΔE) in the luminal ATPases associated with various cellular activities (AAA+) protein torsinA encoded by the <italic>TOR1A</italic>...

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Literature Corpus work: 898bfb6a-1e23-500c-89cd-4e8b091100ce
DOI: 10.21203/rs.3.rs-21125/v1

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