Louise Sloth Kodal Sophia Hammer-Hansen Sonja Holm-Yildiz Karen Grønskov Helena Gásdal Karstensen Tina Dysgaard
10.3389/fneur.2022.1066040
Front Neurol
2022 Dec 12;13:1066040.
case report hereditary neuropathy optic atrophy polyneuropathy whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36578309/
Case Reports
PMC9790965
36578309
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy
2022