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Article

Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.

Journal of molecular neuroscience : MN - 1 Dec 2021

Li Li-Xi, Jiang Li-Ting, Pan You-Gui, Zhang Xiao-Long, Pan Li-Zhen, Nie Zhi-Yu, Chen Yu-Hui, Jin Ling-Jing

Abstract excerpt

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a rare mitochondrial disorder associated with mutations in the POLG gene, which encodes the DNA polymerase gamma catalytic subunit. A few POLG-related SANDO cases have been reported, but the genotype-phenotype correlation remains unclear. Here, we report a patient with SANDO carrying two novel missense variants (c.2543G>C, p.G848A and...

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Share to DNA Polymerase gamma
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33791913
DOI: 10.1007/s12031-021-01831-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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