Abstract
We report a patient who manifested a heterogeneous clinical presentation, including hypertrophic cardiomyopathy and hypothyroidism, with initially limited central nervous system involvement, and who harbored the mitochondrial (mt)DNA A3243G mutation. MtDNA analyses also revealed deleted genomes in muscle and blood. This atypical molecular combination may have influenced the clinical phenotype.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: August 5, 1999 / Accepted: October 5, 1999
Rights and permissions
About this article
Cite this article
De Joanna, G., Santorelli, F., Casali, C. et al. Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome. J Hum Genet 45, 109–111 (2000). https://doi.org/10.1007/s100380050025
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050025
This article is cited by
-
What is a ‘novel’ mtDNA mutation – and does ‘novelty’ really matter?
Journal of Human Genetics (2006)