Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Ophthalmology AND mitochondrial

Genet Med. 2023 Aug 31:100961. doi: 10.1016/j.gim.2023.100961. Online ahead of print.

NO ABSTRACT

PMID:37650884 | DOI:10.1016/j.gim.2023.100961