Article

Neuromuscular Disorders in Children through the Lens of Next Generation Sequencing: A Study of Diagnostic Yield

2026-03-26

Abstract excerpt

<h4>Background: </h4> Pediatric-onset neuromuscular diseases (NMDs) represent a clinically and genetically heterogeneous group of rare disorders, often posing significant diagnostic challenges due to overlapping phenotypes. Next-generation sequencing (NGS), particularly whole-exome sequencing (WES), has transformed the diagnostic landscape; however, its clinical utility varies across phenotypic subgroups. <h4>Meth...

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Literature Corpus work: b59a6ac1-1b31-58ea-836c-7241f3ba6163
DOI: 10.20944/preprints202603.2143.v1

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