Cottrell et al. reported that a homozygous recessive mutation in the SGCB gene caused limb girdle muscular dystrophy in a maternal UPD4 case [22], and Ding et al. reported that a severe hypodysfibrinogenemia in a UPD4 case is also due to an homozygous mutation [21]. This evidence concerns the gene SGCB and limb-girdle muscular dystrophy.