Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Dear Editor, We read with interest the article published by Nallamilli and colleagues describing a large limb–girdle muscular dystrophy (LGMD) cohort of patients.1 In particular, the chapter describing the association of the CAPN3 variant, c.598_612del15 [p.(Phe200_Leu204del)], with an autosomal dominant form of calpainopathy. Indeed, this novel transmission mode for calpainopathies was initially suggested by Vissing and colleagues in 20162 and...