CareLit · DOI-Nachweis · Klinische Neurophysiologie
Supplementation studies with dAMP/dGMP in primary cultures of human myoblasts and myotubes of patients with mitochondrial DNA depletion caused by mutations in the DGUOK and POLG1 genes
DOI 10.1055/s-0029-1216184
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Nachweis in CareLit
Autor:innenS Bulst, A Abicht, H Lochmüller, R Horvath
ZeitschriftKlinische Neurophysiologie
Ausgabe03/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Mitochondrial DNA depletion syndrome (MDS), a frequent cause of severe childhood (hepato)encephalomyopathies, is defined as a reduction of mitochondrial DNA copy number related to nuclear DNA in different tissues which leads to insufficient synthesis of respiratory chain complexes. MDS is responsible for approximately 30–40% of combined RC deficiencies in children. Mutations of eight nuclear genes (DGUOK, POLG1, MVP…
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Zitierempfehlung
S Bulst, A Abicht, H Lochmüller, R Horvath (2009) Supplementation studies with dAMP/dGMP in primary cultures of human myoblasts and myotubes of patients with mitochondrial DNA depletion caused by mutations in the DGUOK and POLG1 genes. Klinische Neurophysiologie (03). https://doi.org/10.1055/s-0029-1216184
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