| 1 | PCYT2, SPG82 |
| Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. | |
| Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, ; Deciphering Developmental Disorders Study, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S, Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, | |
| Brain Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291 2019 | |