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Mitochondrial myopathy
ICD-10 G713
ICD-9
OMIM [1]
DiseasesDB [2]
MedlinePlus [3]
eMedicine /
MeSH {{{MeshNumber}}}

Mitochondrial myopathy is a type of myopathy associated with mitochondrial disease. On biopsy, the muscle tissue of patients with this disease 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.

Treatment

Although no cure currently exists, there is hope in treatment for this class of hereditary diseases with the use of an embryotic mitochondrial transplant.[1]

Signs and symptoms

Signs and symptoms include:

  • 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
  • Chronic progressive external ophthalmoplegia (CPEO)
    • Progressive ophthalmoparesis
    • Symptomatic overlap with other mitochondrial myopathies

References

  1. 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. URL accessed on 2008-02-08.


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