DYT11 M‐D is caused by loss‐of‐function mutations in SGCE that lead to the absence or reduction of the ɛ‐sarcoglycan protein at the plasma membrane.7, 11, 12, 13 ɛ‐Sarcoglycan is a member of the sarcoglycan family of transmembrane glycoproteins.14, 15 Mutations in the genes encoding α‐, β‐, γ‐, and δ‐sarcoglycan cause different limb girdle muscular dystrophies (LGMD2C‐F). Here, SGCE is linked to autosomal recessive limb-girdle muscular dystrophy type 2C.