title: [The complex clinical presentation of hereditary mitochondrial diseases].
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.
authors.affiliation: Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense. anja.frederiksen@rsyd.dk.
authors.forename: Anja Lisbeth
authors.initials: AL
authors.lastname: Frederiksen
authors.forename: Morten Frost
authors.initials: MF
authors.lastname: Nielsen
authors.forename: Knud
authors.initials: K
authors.lastname: Yderstræde
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial