Two Additional Variants Expand the Genotypic Spectrum of Dominant Calpain‐3 Deficiencies

ABSTRACT

Limb‐girdle muscular dystrophy type D4 is caused by a single pathogenic variant of the CAPN3 gene coding for calpain‐3 and is clinically milder than the more common recessive form, type R1. It is likely underdiagnosed, and expanding the phenotype–genotype relationship is needed to establish a clinical guideline for this disorder.