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Simplified structure of a typical mitochondrion
|Classification and external resources|
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the muscle tissue of patients with these diseases usually demonstrate "ragged red" muscle fibers. These ragged-red fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased reactivity for cytochrome c oxidase. Inheritance is maternal (non-Mendelian extranuclear). There are several subcategories of mitochondrial myopathies.
Signs and symptoms
Signs and symptoms include:
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)
- Myoclonic epilepsy and ragged-red fibers (MERRF)
- Progressive myoclonic epilepsy
- Clumps of diseased mitochondria accumulate in muscle fibers and appear as "ragged-red fibers" when muscle is stained with modified Gömöri trichrome stain
- Short stature
- Kearns-Sayre syndrome (KSS)
- Chronic progressive external ophthalmoplegia (CPEO)
- Progressive ophthalmoparesis
- Symptomatic overlap with other mitochondrial myopathies
- "Three-parent embryo formed in lab" (web). Scientists believe they have made a potential breakthrough in the treatment of serious disease by creating a human embryo with three separate parents. BBC News. 5 February 2008. Retrieved 2008-02-08.