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episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy (DOID:0070734)
Alliance: disease page
Synonyms: MEOAL; MMDS8; multiple mitochondrial dysfunctions syndrome 8
Alt IDs: OMIM:251900, UMLS_CUI:C5193007
Definition: A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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05/26/2026
MGI 6.24 		The Jackson Laboratory