Abbas S, Brugger B, Zubair M, Gul S, Blatterer J, Wenninger J, Rehman K, Tatrai B, Khan MA, Windpassinger C. Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H. Neurol Res. 2021 Feb;43(2):133–40. doi: 10.1080/01616412.2020.1831329. PMID: 33246395.