Mitochondrial myopathies

[Tariq Zaki]

Mitochondrial myopathies are muscle disorders inherited through faulty genes in the mitochondria or in the nuclear genes that control mitochondrial function. The muscles and organs such as the brain, nerves, and retinas are affected.
Mitochondria are the energy factories of cells and carry some of their own genes. When mitochondria stop working properly, less and less energy is generated within the cells. This may lead to cell injury or even cell death, and body systems, often including the muscles, will not function properly. Mitochondrial myopathies can be inherited through faulty genes within the mitochondria themselves or through genes within the cell nucleus.
Mitochondrial myopathies can cause increasing weakness in one or a few muscle groups, such as the eye muscles (ophthalmoplegia) and often affect many other organs, such as the heart, intestines, or brain. Infants whose muscles are affected are weak and have severely reduced muscle tone (hypotonia, or