Features include always present findings: Highly elevated creatine kinase, Muscle spasm, Gowers sign, and Ketonuria and others; and rarely findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Nystagmus, Overactive reflexes (hyperreflexia), and Rhabdomyolysis and others. 37 total HPO annotations.

FDX2 encodes ferredoxin 2 (183 aa). Electron donor, of the core iron-sulfur cluster (ISC) assembly complex, that acts to reduce the persulfide into sulfide during [2Fe-2S] clusters assembly on the scaffolding protein ISCU. Highest expression in Brain Frontal Cortex BA9 (62.2 TPM) and Brain Cortex (54.1 TPM).

Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy is associated with mutations in the FDX2 gene on chromosome 19.

The FDX2 protein participates in FDX1,FDX2 (reduced), FDX1,FDX2 (oxidized), and FDXR transfers electrons to FDX1,2 (FDX1L) pathways.

FDX2 is classified as a druggable target with score 0.0.

Genetic testing for FDX2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 15 always present features.

No clinical trials have been registered for mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.

3 publications have been identified in PubMed for mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

• Doni D (2025). [PMID: 41372147](https://pubmed.ncbi.nlm.nih.gov/41372147/). *Cell Death Dis*. [Case Report / Case Series]

• Querci L (2025). [PMID: 40121555](https://pubmed.ncbi.nlm.nih.gov/40121555/). *Inorg Chem*. [Basic Science / Preclinical]

• Grifagni D (2024). [PMID: 39467201](https://pubmed.ncbi.nlm.nih.gov/39467201/). *Protein Sci*. [Basic Science / Preclinical]