Article

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders

2026-02-25

Abstract excerpt

<h4>Background: </h4> Muscle biopsy has long been regarded as the cornerstone for diagnosing pediatric muscular disorders; however, it is invasive and may be limited by sampling error and inconclusive histopathological findings. This study aimed to evaluate whether whole-exome sequencing (WES) can effectively replace muscle biopsy as a first-line diagnostic approach in children with suspected neuromuscular disorde...

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Literature Corpus work: 43b49f46-f99b-5e33-9587-4adb7348c1a8
DOI: 10.20944/preprints202602.1417.v1

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