Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Magrinelli F, Taylor LS, Sedighzadeh S, Moualek D, Severino M, Grba DN, Alston CL, Champion M, Tavasoli AR, Lascelles K, Gowda VK, Srinivasan VM, Fateh ST, Kordi-Tamandani M, Khajeh A, Yaghoubi S, Dominik N, Babaei M, Javadzadeh M, Varaghchi JR, Miryounesi M, Ghayoor Karimiani E, Tazir M, Ali Pacha L, Bhatia KP, Taylor RW, Houlden H, Maroofian R.
Magrinelli F, et al. Among authors: tavasoli ar.
Brain Commun. 2025 Sep 23;7(5):fcaf369. doi: 10.1093/braincomms/fcaf369. eCollection 2025.
Brain Commun. 2025.
PMID: 41069424
Free PMC article.