Open Access Research article

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Frank Roels1*, Patrick Verloo2, François Eyskens3, Baudouin François4, Sara Seneca5, Boel De Paepe2, Jean-Jacques Martin6, Valerie Meersschaut7, Marleen Praet1, Emmanuel Scalais8, Marc Espeel9, Joél Smet2, Gert Van Goethem10 and Rudy Van Coster2*

1 Department of Pathology, Ghent University Hospital, block A, De Pintelaan 185, 9000 Gent, Belgium

2 Department of Pediatrics, Division of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium

3 Metabolic Unit, PCMA, Antwerp, Belgium

4 Centre Pinocchio CHC Clinique de l'Espérance, Montegnée, Belgium

5 Center for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium

6 Neuropathology, University of Antwerp, Antwerp, Belgium

7 Radiology and Medical Imaging, Ghent University Hospital, Belgium

8 Division of Paediatric Neurology, Centre hospitalier de Luxembourg, Luxembourg

9 Human Anatomy and Embryology, Ghent University, Ghent, Belgium

10 Division of Neurology and Neuromuscular Reference Center, University Hospital of Antwerp, Antwerp, Belgium

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BMC Clinical Pathology 2009, 9:4 doi:10.1186/1472-6890-9-4

Published: 5 June 2009

Additional files

Additional file 1:

Table 1. OXPHOS activities in patients tissues using spectrophotometry.

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