Clinical and Biochemical Features for the Identification of Dominant Calpainopathies

Overview

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.

The investigators will review clinical and biomarker information in a cohort of 50 patients with heterozygous variants in the CAPN3 gene. Patients are referred by participating centers who will provide anonymised information on the clinical phenotype and laboratory test results. Suitable subjects will be contacted to obtain informed consent. Pseudonymised anamnestic data will be collected from the patient's clinical history and medical records.The aim is to identify a set of multidisciplinary data sufficient to define a diagnostic algorithm for the dominant calpainopathies.

Conditions

Interventions