PMID: 6539500May 5, 1984Paper

Congestive cardiomyopathy and pyruvate elevation in a case of Charcot-Marie-Tooth disease

Schweizerische medizinische Wochenschrift
R C Martin-Du PanJ J Perrenoud

Abstract

The case is reported of a patient with Charcot-Marie-Tooth disease and congestive cardiomyopathy. This is an exceptional association and suggests there could be transitional forms between Charcot-Marie-Tooth disease and Friedreich ataxia, which is frequently associated with hypertrophic cardiomyopathy. A disorder of pyruvate metabolism observed in our patient could explain both the neurologic and cardiac symptoms.

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