Thelansis

  Primary Mitochondrial Myopathies (PMMs) are disorders that cause oxidative phosphorylation (OXPHOS) abnormalities that primarily, but not exclusively, damage skeletal muscle. Progressive external ophthalmoplegia (PEO), eyelid ptosis, exercise intolerance, and muscle weakness are the most common symptoms of myopathy that occur in mitochondrial diseases. It is a genetically defined disorder leading to defects of oxidative phosphorylation affecting predominantly, but not exclusively, lean muscle. The indications and symptoms of PMM vary, and how one of these disorders affects one individual may differ significantly from how it affects another. This is true for persons who have the same condition or even people from the same family who have the same genetic variant. A gene mutation causes primary mitochondrial myopathies. When a gene variant arises, the protein product may be defective, inefficient, nonexistent, or overproduced. This can affect numerous organ systems of the body, i...