ABSTRACT
Disorders associated with mitochondrial DNA (mtDNA) mutations are usually dominated by involvement of the nervous system and skeletal muscle (hence the term “mitochondrial encephalomyopathies”). However, considering the high dependence of the heart on oxidative metabolism, it is not surprising that myocardial dysfunction is often a prominent feature in these disorders, either as isolated cardiomyopathy or as part of a multisystem mitochondrial syndrome. We report an infant with a maternally inherited C-to-T transition at nucleotide 3303 of mtDNA in the tRNALeu(UUR) gene; this is the second kindred with cardiomyopathy identified to have this mutation of mitochondrial DNA. A brief review of other mitochondrial DNA defects is also included.
Similar content being viewed by others
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Goldstein, J., Shanske, S., Bruno, C. et al. Maternally Inherited Mitochondrial Cardiomyopathy Associated with a C-to-T Transition at Nucleotide 3303 of Mitochondrial DNA in the tRNALeu(UUR) Gene. Pediatr. Dev. Pathol. 2, 78–85 (1999). https://doi.org/10.1007/s100249900094
Issue Date:
DOI: https://doi.org/10.1007/s100249900094