Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy.

Abstract excerpt

ADSS1 myopathy is an ultrarare congenital myopathy characterized by progressive cardiac and skeletal muscle degeneration with childhood to adolescent onset. This autosomal recessive disease is caused by mutations in the ADSS1 gene, encoding the enzyme adenylosuccinate synthetase (AdSS1). AdSS1 plays a critical role in the adenine nucleotide cycle, which is important for energy metabolism in muscle cells....

Topics

Join the communities discussing this publication.

• Disease Models, Animal
• Mice
• Mice, Knockout
• Muscle, Skeletal
• Muscular Diseases