Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

We studied a 62 year-old woman with a clinical phenotype characterized by e ncephalopathy, restrictive cardiomyopathy, and prominent intestinal pseudo- obstruction. Muscle morphology showed ragged red fibres with ultrastructura lly abnormal mitochondria whereas muscle respiratory chain was normal. Mole cular genetics revealed the 'common deletion' in mtDNA, which represented 4 0% of total mtDNA. These data expand and confirm the wide clinical spectrum of mitochondrial disorders associated with single large-scale mtDNA deleti ons. (C) 2000 Elsevier Science B.V. All rights reserved.