Publications by authors named "Eric Z Jordens"
Article Synopsis
- Sengers syndrome includes congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis, but standard mitochondrial tests show no biochemical abnormalities.
- The muscle tissues of two patients displayed significantly reduced levels of the adenine nucleotide translocator 1 (ANT1) protein, and low activity of ANT1 was found in mitochondrial extracts from their muscles.
- Despite these findings, genetic analysis indicates that ANT1 is not the main genetic cause of Sengers syndrome; the deficiency may result from issues in gene expression or protein processing.
