Article
[The complex clinical presentation of hereditary mitochondrial diseases].
Ugeskrift for laeger - 15 Sept 2014
Frederiksen Anja Lisbeth, Nielsen Morten Frost, Yderstræde Knud, Vissing John
Abstract excerpt
Mitochondria produce cellular energy, which is of vital importance for cellular metabolism. The organelles contain their own genetic material (i.e. mitochondrial DNA (mtDNA)) with a matrilineal inheritance. Mutations in the mtDNA may cause mitochondrial disease affecting multiple organs leading to diabetes, hearing impairment, muscle fatigue, ptosis and stroke-like episodes in varying combinations and severity....
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