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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Detalles Bibliográficos
Autores principales: Wu, Shuiyan, Bai, Zhenjiang, Dong, Xingqiang, Yang, Daoping, Chen, Hongmei, Hua, Jun, Zhou, Libing, Lv, Haitao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704677/
https://www.ncbi.nlm.nih.gov/pubmed/31438894
http://dx.doi.org/10.1186/s12887-019-1656-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704677/
https://www.ncbi.nlm.nih.gov/pubmed/31438894
http://dx.doi.org/10.1186/s12887-019-1656-7

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