Myopathy, isolated mitochondrial, autosomal dominant
A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles.
| Name | Development Level | Target Family |
|---|
| Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease