Det komplekse kliniske billede ved arvelige mitokondriesygdomme

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

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

Department of Neurology

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.
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

Cite this

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title = "Det komplekse kliniske billede ved arvelige mitokondriesygdomme",

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.",

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T1 - Det komplekse kliniske billede ved arvelige mitokondriesygdomme

AU - Frederiksen, Anja Lisbeth

AU - Nielsen, Morten Frost

AU - Yderstræde, Knud

AU - Vissing, John

PY - 2014/9/15

Y1 - 2014/9/15

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84907588576

M3 - Tidsskriftartikel

C2 - 25294199

SN - 1603-6824

VL - 176

SP - 1779

EP - 1783

JO - Ugeskrift for læger [online]

JF - Ugeskrift for læger [online]

IS - 38

ER -

Det komplekse kliniske billede ved arvelige mitokondriesygdomme

Abstract

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