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. 1985 Nov;54(5):543–547. doi: 10.1136/hrt.54.5.543

Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.

R C Sengers, A M Stadhouders, E van Lakwijk-Vondrovicova, K Kubat, W Ruitenbeek
PMCID: PMC481944  PMID: 4052295

Abstract

Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles associated with congenital cataracts. Moderate exercise resulted in lactic acidosis. Oxidation of pyruvate and other substrates and the production of adenosine triphosphate were normal in vitro. A younger brother of the patient had had congenital cataract and had died from hypertrophic obstructive cardiomyopathy.

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Selected References

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