Article

Multimodal Non-Invasive Biomarker Characterization of Structural and Functional Alterations in ADSS1 Myopathy

2026-01-30

Abstract excerpt

Adenylosuccinate synthetase 1 (ADSS1) myopathy is an ultra-rare disease characterized by progressive muscle dysfunction. The objective of this investigation was to employ a non-invasive biomarker approach to phenotype (fine-)motor skills, speech production and cognition in adults with ADSS1 myopathy. Five individuals with ADSS1 myopathy and five age-sex-matched healthy controls (HCs) underwent a comprehensive mult...

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Literature Corpus work: b3c370df-717e-51a8-8f60-09253c736244
DOI: 10.64898/2026.01.25.26344324

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