Disease ID | Source | Name | Description |
255125 | OMIM | Myopathy with exercise intolerance Swedish type (MEIS) | Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. The disease is caused by variants affecting the gene represented in this entry. |