The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reporte...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2017-12-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-60-408.pdf |