eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | 3-methylglutaconic aciduria |
| Comorbidity | C0162670|mitochondrial cytopathy |
| Sentences | 1 |
| PubMedID- 22405928 | This study aims to investigate the molecular basis of a mitochondrial cytopathy in a patient with 3-methylglutaconic aciduria and to expand the clinical phenotype associated with polg mutations. |
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