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