Det komplekse kliniske billede ved arvelige mitokondriesygdomme
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Det komplekse kliniske billede ved arvelige mitokondriesygdomme. / Frederiksen, Anja Lisbeth; Nielsen, Morten Frost; Yderstræde, Knud; Vissing, John.
I: Ugeskrift for Laeger, Bind 176, Nr. 38, 15.09.2014, s. 1779-1783.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
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
C2 - 25294199
VL - 176
SP - 1779
EP - 1783
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 38
ER -
ID: 137372061