The complex clinical presentation of hereditary mitochondrial diseases
Frederiksen, A.Lisbeth.; Nielsen, M.Frost.; Yderstræde, K.; Vissing, J.
Ugeskrift for Laeger 176(38)
2014
ISSN/ISBN: 0041-5782 PMID: 25294199 Document Number: 677386
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.