Abstract
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. The variable phenotypic presentations make it a challenge to recognize mitochondrial diseases and, consequently, the correct diagnosis is often delayed.
Translated title of the contribution | The complex clinical presentation of hereditary mitochondrial diseases. |
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Original language | Danish |
Journal | Ugeskrift for læger [online] |
Volume | 176 |
Issue number | 38 |
Pages (from-to) | 1779-83 |
Number of pages | 5 |
ISSN | 1603-6824 |
Publication status | Published - 15 Sept 2014 |