Background and purpose Mitochondrial diseases (MDs) are heterogeneous disorders
caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) associated with …

Iron‑sulfur clusters (Fesingle bond S) are one of the most primitive and ubiquitous cofactors
used by various enzymes in multiple pathways. Biosynthesis of Fe single bond S is a …

Mitochondria are dynamic cellular organelles playing many biological roles that are
fundamentally required for cellular functions. The primary role of mitochondria is ATP …

ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple
mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of …

Agenesis of the corpus callosum (ACC) is a rare congenital disorder characterized by partial
or complete absence of Congenital ACC may be due to either genetic or nongenetic events …

A one and half-year-old baby boy presented with subacute regression of milestones in all
domains. On examination, he had spastic dystonic quadriparesis. Reflexes were brisk …