Abstract:Rationale for the studyCardiomyopathy is an increasingly recognised presentation of mitochondrial disease in infancy. This may be an isolated finding or part of a wider multisystem disease presentation. Isolated deficiency of respiratory chain complex I is the most commonly identified biochemical defect in paediatric mitochondrial disease. Here we used a candidate gene and homozygosity mapping approach to identify the causative gene defect in two children with complex I deficiency and cardiomyopathy.Methodolog… Show more
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