Mitochondrial myopathy

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Mitochondrial myopathy
File:562px-Diagram of a human mitochondrion.png
Simplified structure of a typical mitochondrion
ICD-10 G71.3
MeSH D017240

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]



Overview

Mitochondrial myopathy are a type of myopathy associated with mitochondrial disease.

Examples 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 the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gomori trichrome stain
    • short stature

Kearns-Sayre syndrome (KSS)

    • external ophthalmoplegia
    • cardiac conduction defects
    • sensory-neural hearing loss

Progressive external ophthalmoplegia (PEO)

    • progressive ophthalmoparesis is the cardinal feature
    • symptomatic overlap with many other mitochondrial myopathies

Template:PNS diseases of the nervous system Template:Mitochondrial diseases


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