Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

Source
- (2024) p.
Author(s)

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

Source
Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
Author(s)

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America : a case report

Source
Molecular genetics & genomic medicine - ISSN 2324-9269-9:10 (2021) p.
Author(s)