Depletion of mitochondrial DNA in fibroglast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

We investigated clinical and cellular phenotypes of 24 children with mutations in the catalytic (alpha) subunit of the mitochondrial DNA (mtDNA) gamma polymerase (POLG1). Twenty-one had Alpers syndrome, the commonest severe POLG1 autosomal recessive phenotype, comprising hepatoencephalopathy and oft...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Ashley, N, O'Rourke, A, Smith, C, Adams, S, Gowda, V, Zeviani, M, Brown, G, Fratter, C, Poulton, J
स्वरूप: Journal article
भाषा:English
प्रकाशित: Oxford University Press 2008
विषय: