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.
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Muscle strenght
Timeframe: through study completion, an average of 1 year
Muscle biopsy
Timeframe: through study completion, an average of 1 year
Creatin Kinase
Timeframe: through study completion, an average of 1 year
Clinical history
Timeframe: through study completion, an average of 1 year