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Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992\u00a0+\u00a02T&gt;G) <jats:italic>CAPN3<\/jats:italic> mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no\u2010go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. 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