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Article

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods

10 Jun 2025

Abstract excerpt

BACKGROUND: Neuromuscular disorders (NMDs), rare diseases affecting the peripheral nervous system, often cause progressive weakness and systemic complications. Despite advances in genetic diagnostics, data from Southeast Asia remain limited. Ancestral variation may influence mutation spectra, revealing novel alleles and phenotypic diversity. METHODS: We evaluated the diagnostic yield and clinical impact of...

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PMID: 40494860
DOI: 10.1038/s41390-025-04160-4

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