Although previous study have identified single heterozygous Dysferlin mutations as pathogenic causes of Dysferlinopathies, the majority of dysferlin variants is required to be homozygous or potentially compound for functional alterations and the incidence for Dysferlinopathies (Nguyen et al., 2007). Here, DYSF is linked to neuromuscular disease caused by qualitative or quantitative defects of dysferlin.