Article

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics

2024-01-16

Abstract excerpt

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, w...

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Literature Corpus work: d89ef695-3d8a-51c8-bb16-314b5b178b6c
DOI: 10.20944/preprints202401.1175.v1

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