| 1 | PMPCA, PMPCAD |
| Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease. | |
| Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. | |
| Cold Spring Harb Mol Case Stud 2(3):a000786. doi: 10.1101/mcs.a000786. 2016 | |