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Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

25 May 2025

Abstract excerpt

OBJECTIVE: Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next-generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome sequencing. METHODS: In total, 70 undiagnosed cases with suspected genetic...

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PMID: 40413734
DOI: 10.1002/acn3.70078

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