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Article

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

International journal of molecular sciences - 6 Mar 2026

Lee Chung-Lin, Chang Ya-Hui, Chuang Chih-Kuang, Chiu Huei-Ching, Tu Yuan-Rong, Lo Yun-Ting, Wu Jun-Yi, Lin Hsiang-Yu, Lin Shuan-Pei

Abstract excerpt

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 disorders. Between January...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41828661
DOI: 10.3390/ijms27052446
PMCID: PMC12985423

Genes

DMD
COL6A1
COL6A3
GJB2
OCRL
ZSWIM6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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