| Metadata | |
|---|---|
| ID | DOID:0070734 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070734 Copy |
| Name | episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy |
| 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. https://pubmed.ncbi.nlm.nih.gov/24281368/, https://pubmed.ncbi.nlm.nih.gov/30010796/ |
| Xrefs | |
| SKOS |
exactMatch GARD:0025221 exactMatch UMLS_CUI:C5193007 exactMatch MIM:251900 |
| Subsets |
DO_rare_slim |
| Synonyms |
MEOAL [EXACT] MMDS8 [EXACT] multiple mitochondrial dysfunctions syndrome 8 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |