A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosom...

Source: BMC Neurology - February 18, 2021 Category: Neurology Authors: Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan and Giovanni Stevanin Tags: Case report Source Type: research