Article

Loss of adenylosuccinate synthetase 1 in mice recapitulates features of <i>ADSS1</i> myopathy

2025-10-02

Abstract excerpt

<h4>ABSTRACT</h4> ADSS1 myopathy is an ultra-rare 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 mu...

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Literature Corpus work: 8c838ecb-a542-56a3-988b-9ef64a7a9533
DOI: 10.1101/2025.10.01.679796

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