Article

Clinical and therapeutic impact of whole-exome sequencing in inherited neuromuscular disorders: first autonomous cohort from Algeria

2026-03-31

Abstract excerpt

<title>Abstract</title> <p> Inherited neuromuscular disorders are characterised by marked clinical and genetic heterogeneity and remain highly exposed to prolonged diagnostic delay, with direct consequences for prognosis, therapeutic timing, surveillance, and family counselling. Whole-exome sequencing (WES) has substantially reshaped the diagnostic trajectory of these conditions, particularly in healthcare syste...

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Literature Corpus work: 7e618444-54b1-5fc8-a9b6-52d754276b33
DOI: 10.21203/rs.3.rs-9249395/v1

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