Among the information reported by the LOVD register, everybody can note that, as far as the beta-sarcoglicanopathy is concerned, the most frequent mutations involve the num. 1 and num. 3 exons. In Italy the most frequent mutation refers to the duplication of eight nucleotides (starting from the num. 377 up to the num. 384) on the num. 3 exon. This has been found in 23 cases. The same case has been adverted once in Brazil.

(The last update is dated august 30, 2011)

Here is the representative sketch of the beta-sarcoglycan gene.

Into the same database you can find information about the distribution of this disease in each country. Germany has the biggest number of cases: 123. Italy follows with 45 cases, gathered around the north-east area of the country.