Article
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Human molecular genetics - 1 Jul 2017
Siibak Triinu, Clemente Paula, Bratic Ana, Bruhn Helene, Kauppila Timo E S, Macao Bertil, Schober Florian A, Lesko Nicole, Wibom Rolf, Naess Karin, Nennesmo Inger, Wedell Anna, Peter Bradley, Freyer Christoph, Falkenberg Maria, Wredenberg Anna
Abstract excerpt
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (mtDNA) integrity and maintenance. On a molecular level, depending on their location within the enzyme, mutations...
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