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

22 Aug 2019

Abstract excerpt

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 regression and hypodontia. POLR3-related leukodystrophy belongs to the family of RNA polymerase III-related...

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PMID: 31438894
DOI: 10.1186/s12887-019-1656-7

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Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportPMID 31438894Read ↗

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