Abstract
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutation in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with sarcoglycanopathies created a European network. The aim of this study in to determine the clinical and genetic spectrum of a large cohort of European patients with sarcoglycanopathy from this European network.
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