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Sequences of the CAPN3 (exon 3) and the FKRP (exon 4) gene. a. Part of the pedigree of family MD1, showing the parents (first cousins) carrying the heterozygous c.483delG mutation (p.Ile162SerfsX17) and the two affected children with the homozygous mutation, as well as one child without a sequence change at this position (see arrows). b. Part of the sequence of patient MD2 carrying the homozygous c.826 C > A mutation; (p.Leu276Ile, rs28937900) (see arrow).
