Article

2024 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing

2024-11-22

Abstract excerpt

<title>Abstract</title> <p>Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. In order to coordinate the genetic diagnosis by a gene panel approach, the French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now provide revised guideline...

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Literature Corpus work: 2446f06b-7b4d-572b-896a-6fe79f824ce8
DOI: 10.21203/rs.3.rs-5313429/v1

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