HIGHLIGHTS
- who: Louise Sloth Kodal from the University of Milan, Italy have published the Article: Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy, in the Journal: (JOURNAL)
- what: The authors report two patients with optic atrophy and polyneuropathy of varying degrees.
SUMMARY
SLC25A46 is a part of the Solute Carrier 25 (SLC25) family of transporters, a large family of more than 50 transporters varying in both size and transported substrates. Patients can present with either Leigh syndrome, progressive myoclonic ataxia, or optic atrophy (OA), and limb spasticity . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.