CareLit · DOI-Nachweis · Aktuelle Neurologie
Phenotypic variations in patients with linker-region mutations in the mitochondrial DNA polymerase gamma gene
DOI 10.1055/s-2007-987874
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Autor:innenC Kornblum, M Baron, M Bös, G Zsurka, WS Kunz
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
Background: We studied three patients with evidence of mitochondrial disease for mutations in the nuclear mitochondrial DNA (mtDNA) polymerase gamma gene (POLG1). Two patients (pat.1, 2) presented with Alpers syndrome (refractory epilepsy, developmental delay, liver failure), while the third patient (pat. 3) had chronic progressive external ophthalmoplegia (CPEOplus) with first symptoms in early adulthood, but no li…
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Zitierempfehlung
C Kornblum, M Baron, M Bös, G Zsurka, WS Kunz (2007) Phenotypic variations in patients with linker-region mutations in the mitochondrial DNA polymerase gamma gene. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987874
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