Det komplekse kliniske billede ved arvelige mitokondriesygdomme

Translated title of the contribution: The complex clinical presentation of hereditary mitochondrial diseases.

Anja Lisbeth Frederiksen, Morten Frost Nielsen, Knud Yderstræde, John Vissing

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 contributionThe complex clinical presentation of hereditary mitochondrial diseases.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number38
Pages (from-to)1779-83
Number of pages5
ISSN1603-6824
Publication statusPublished - 15 Sept 2014

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