A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease.

ABSTRACT: Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is a rare autosomal recessive neuromuscular disorder characterized by childhood onset of progressive muscle weakness and exercise intolerance. It is caused by mutations in the FDX2 gene, encoding the mitochondrial protein ferredoxin 2 (FDX2), a central component of the cellular FeS protein biogenesis. To date there are gaps in our understanding of how FDX2 mutations impact mitochondrial pathophysiology in MEOAL patients. In this work we report a multidisciplinary study of a pediatric patient with a diagnosis of neuromuscular disorder, with multiorgan involvement, associated with a novel homozygous mutation in FDX2, i.e., c.200+4 A > G. We found that: (i) the mutation alters the splicing

SUBMITTER: Doni D 

PROVIDER: S-EPMC12824309 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature