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Article

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.

International journal of molecular sciences - 29 Apr 2026

Ostojić Slavica, Kovačević Gordana, Ilić Nikola, Marić Nina, Anđelković Marina, Lalić Tanja, Mišković Marijana, Ljubičić Kristel Klaassen, Marjanović Irena, Paripović Aleksandra, Baša Mihail, Vukomanović Vladislav, Krstić Jovana, Adamović Milica, Sovtić Aleksandar, Sarajlija Adrijan

Abstract excerpt

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. We conducted a combined...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42123532
DOI: 10.3390/ijms27093949
PMCID: PMC13163609

Genes

DMD
LAMA2
RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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