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Neuromuscular diseases: genomics-driven advances

26 Nov 2024

Abstract excerpt

Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have now been identified, largely due to the adoption of next-generation sequencing (NGS) technologies such as whole-exome...

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PMID: 39593150
DOI: 10.1186/s44342-024-00027-y

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