POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
John VissingKatherine JohnsonAna TöpfShahriar NafissiJordi Díaz-ManeraVanessa M FrenchRoland F SchindlerPadmini SarathchandraNicoline LøkkenSusanne RinnéMax FreundNiels DecherThomas MüllerMorten DunoThomas KragThomas BrandVolker StraubPublished in: Annals of neurology (2019)
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.