| Disease ID | Source | Name | Description |
| 251900 | OMIM | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) | An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy. The disease is caused by variants affecting the gene represented in this entry. |