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

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 cognitive reg...

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Опубликовано в: :BMC Pediatr
Главные авторы: Wu, Shuiyan, Bai, Zhenjiang, Dong, Xingqiang, Yang, Daoping, Chen, Hongmei, Hua, Jun, Zhou, Libing, Lv, Haitao
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6704677/
https://ncbi.nlm.nih.gov/pubmed/31438894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1656-7
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