Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Definition
An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
Also known as mitochondrial DNA depletion syndrome 12, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, MTDPS12B — per MONDO