<i>POPDC3</i> Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

Abstract

Our findings point to an important role of POPDC3 for skeletal muscle function and suggest that pathogenic variants in POPDC3 are responsible for a novel type of autosomal recessive limb girdle muscular dystrophy. ANN NEUROL 2019;86:832-843.