Clinical and Biochemical Features for the Identification of Dominant Calpainopathies

Mutations in the CAPN3 gene cause muscular dystrophies with dysfunction in calpain-3. Calpainopathies are usually inherited in an autosomal recessive manner but in some families they can occur in a dominant inheritance. The significance of heterozygous variants is difficult to interpret in the absence of family history. In this study, the investigators will review the clinical and laboratory information in a cohort of patients identified in the participating centers, with the aim of improving the diagnostic strategy of dominant calpainopathies.