Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome
- 1 March 2000
- journal article
- case report
- Published by Springer Nature in Journal of Human Genetics
- Vol. 45 (2) , 109-111
- https://doi.org/10.1007/s100380050025
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.Keywords
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