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Article

Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1-Deficient Myopathy.

Journal of inherited metabolic disease - 1 May 2026

Yekedüz Merve Koç, van Gool Raquel, van der Heijden Hanne, Cobb Buket Sonbas, Shah Nehal, Johnson Georgina, Timpani Cara A, Shulman Julie, Rameh Vanessa, Hsu Evan E, LeSon Courtney, Lee Pui Y, Vogel Adam P, Al-Hertani Walla, Park Hyung Jun, Rybalka Emma, Rutkove Seward B, Upadhyay Jaymin

Abstract excerpt

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

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Identifiers

PMID: 42023707
DOI: 10.1002/jimd.70193

Genes

ADSS1
NTF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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