Article

TNXB-Related Disorders: A Qualitative Evidence Synthesis and Proposal for Reclassification as a Muscle-ECM Interface Disorder

2026-01-08

Abstract excerpt

<h4>Background: </h4> TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) is caused by biallelic pathogenic variants in TNXB, encoding the extracellular matrix glycoprotein tenascin-X. Although traditionally classified as a connective tissue disorder based on joint hypermobility and skin findings, accumulating clinical, electrophysiological, and imaging data indicate prominent neuromuscular involvement that...

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Literature Corpus work: 20ece4ab-e113-581a-a52d-49fd0958ba26
DOI: 10.20944/preprints202601.0603.v1

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