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

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

Abstract Background 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 cogni...

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Bibliographic Details
Main Authors: Shuiyan Wu, Zhenjiang Bai, Xingqiang Dong, Daoping Yang, Hongmei Chen, Jun Hua, Libing Zhou, Haitao Lv
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Pediatrics
Subjects:
POLR3-related leukodystrophy
POLR3A gene
Polytrichia
Bronchodysplasia
Online Access:http://link.springer.com/article/10.1186/s12887-019-1656-7

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http://link.springer.com/article/10.1186/s12887-019-1656-7

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