Det komplekse kliniske billede ved arvelige mitokondriesygdomme

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

Det komplekse kliniske billede ved arvelige mitokondriesygdomme

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

Institut for Klinisk Medicin

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.

Bidragets oversatte titel	The complex clinical presentation of hereditary mitochondrial diseases.
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	176
Udgave nummer	38
Sider (fra-til)	1779-1783
Antal sider	5
ISSN	0041-5782
Status	Udgivet - 15 sep. 2014

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Citationsformater

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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.

M3 - Tidsskriftartikel

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SN - 0041-5782

VL - 176

SP - 1779

EP - 1783

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 38

ER -

Det komplekse kliniske billede ved arvelige mitokondriesygdomme

Abstract

FN’s Verdensmål

Fingeraftryk

Citationsformater