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Refining NGS diagnosis of muscular disorders

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  • Twitter @SGorokhova

  • Contributors MC, MB and MK designed the gene panel and performed the molecular diagnosis by analysing the sequencing data. ES-C, AS and SA performed the clinical diagnosis of the patients. MC wrote the manuscript in consultation with MK, SG, NL, NB-P and ES-C.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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