[Congestive cardiomyopathy and pyruvate elevation in a case of Charcot-Marie-Tooth disease].Schweiz Med Wochenschr. 1984 May 05; 114(18):625-9.SM
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.