Open access
Sep 2026
Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report
Children presenting with progressive gait abnormality may suffer from a genetic disorder. NDUFS1-related mitochondrial complex I deficiency is a rare disorder with highly variable phenotypes. Predominant axonal neuropathy without prominent systemic metabolic dysfunction is unusual. Expanding reports of such prese...
R. Sawaya, Amani A. Bannout, Nadine J. Makhoul et al.
· BMC Pediatrics · 0 citations