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Title
The unfolding clinical spectrum of POLG mutations.
Authors
Blok, M J; van den Bosch, B J; Jongen, E; Hendrickx, A; de Die-Smulders, C E; Hoogendijk, J E; Brusse, E; de Visser, M; Poll-The, B T; Bierau, J; de Coo, I F; Smeets, H J
Abstract
Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions.
Publication
Journal of medical genetics, 2009, Vol 46, Issue 11, p776