Congenital cardiomyopathy and cataracts with lactic acidosis

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      The combination of congenital cataracts, hypertrophic cardiomyopathy (HC), mitochondrial myopathy and exercise-related lactic acidosis has been reported from the Netherlands by Sengers et al.1 They first described this disorder in 7 patients from 3 unrelated families in 1975. Subsequently, they extended their observations to include 2 additional patients with more detailed analyses of the biochemical and ultrastructural defect. In the absence of other biochemical defects, the associated lactic acidosis in these patients led to the hypothesis that the primary defect is in the lactate metabolism.2 Thus far, there have been no other reports on this association. We report 6 additional patients from 3 Icelandic families with this disorder.
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