Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of COXPD21 patients, mostly with distal renal tubula...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2024-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2023-0016 |