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APMIS 117 , 291301 (2009)

204 Symptoms of deficiency include neurological problems like neuropathy, cognitive dysfunction, and depression, as well as anemia, dermatitis, glossitis (inflamed tongue), and weakened immune function

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396 Early-onset and juvenile-onset POLG -related disorders generally result from biallelic pathogenic variants with autosomal recessive inheritance, whereas late-onset disorders (mainly PEO) may arise from a heterozygous POLG pathogenic variant with autosomal dominant inheritance