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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13.
Eur J Hum Genet. 2018.
PMID: 29440775
Free PMC article.
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT.
Jaeger B, et al. Among authors: simas mendes m.
Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar.
Mol Genet Metab Rep. 2016.
PMID: 27014579
Free PMC article.
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