DYSF and multiminicore myopathy: WES data from index patient II-1 revealed a novel exonic variant of the dysferlin gene located on chromosome 2p13(GRCh37/hg19, chr2:71840531) which introduces a premature stop codon and is considered to be related to MMD (dysferlin: c.4404delC/p.I1469Sfs∗17).