The unfolding clinical spectrum of POLG mutations

M J Blok (1) , B J van den Bosch (1) , E Jongen (1) , A Hendrickx (1) , C E de Die-Smulders (1) , J E Hoogendijk (2) , E Brusse (3) , M de Visser (4) , B T Poll-The (5) , J Bierau (1) , I F de Coo (3) , H J Smeets (1)

1 Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht
2 University Medical Center [Utrecht]
3 Erasmus MC - Erasmus University Medical Center [Rotterdam]
4 Department of Neurology, Academic Medical Centre, University of Amsterdam
5 Department of Pediatrics, Emma's Children Hospital, University of Amsterdam, Amsterdam

Mutations in the DNA polymerase-gamma () gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions.

Mots clés: Diagnostics; Clinical genetics

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, et al.. The unfolding clinical spectrum of POLG mutations. Journal of Medical Genetics, 2009, 46 (11), pp.776. ⟨10.1136/jmg.2009.067686⟩. ⟨hal-00552698⟩