Article

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

2019-08-13

Abstract excerpt

<h4>Background: </h4> POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and cerebellar symptoms, as well as mild cognitive regression and hypodontia. POLR3-related leukodystrophy belongs to the family of RNA polymerase III-related le...

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Literature Corpus work: b7a3e328-0ded-581f-9ace-81a93a5c42a9
DOI: 10.21203/rs.2.10640/v2

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