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Within MYO-SEQ we identified an over-representation of patients carrying heterozygous variants in some of the LGMD recessive genes, namely CAPN3, DYSF, SGCA, SGCB, SGCD, SGCG and ANO5.
We propose that these patients might carry a second cryptic pathogenic variant. We carried out whole genome sequencing (WGS) to identify intronic or regulatory non-coding variants that may affect splicing and/or protein expression driving disease presentation.
Funding: Sarepta
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Ana Topf
Senior Research Associate
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Adam McFarlane
Laboratory Technical Specialist
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