| 1 | MMLA, PNPLA8 |
| A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ. 2018 PMID: | |
| Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM. | |
| Am J Med Genet A. May;176(5):1232-1237. doi: 10.1002/ajmg.a.38687. 2018 | |
| 2 | MMLA, PNPLA8 |
| Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse | |
| Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. | |
| Hum Mutat. Mar;36(3):301-6. doi: 10.1002/humu.22743. Erratum in: Hum Mutat. 2015 Jun;36(6):656. 2015 | |