https://www.selleckchem.com/pr....oducts/trimethoprim.
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.2543GC, p.G848A and c.452 TC, p.L151P) in POLG. We also reviewed previously reported cases to systematically evaluate the clinical and genetic
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