Article
The unfolding clinical spectrum of POLG mutations.
Journal of medical genetics - 1 Nov 2009
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 excerpt
BACKGROUND: Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. OBJECTIVE: To determine the spectrum of POLG mutations in our Dutch patient cohort, to evaluate the pathogenicity of novel mutations, and to establish genotype-phenotype correlations. RESULTS: The authors identified 64...
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