Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Orphanet Journal Of Rare Diseases
Johnson, Katherine K; Töpf, Ana A; Bertoli, Marta M; Phillips, Lauren L; Claeys, Kristl G KG; Stojanovic, Vidosava Rakocevic VR; Perić, Stojan S; Hahn, Andreas A; Maddison, Paul P; Akay, Ela E; Bastian, Alexandra E AE; Łusakowska, Anna A; Kostera-Pruszczyk, Anna A; Lek, Monkol M; Xu, Liwen L; MacArthur, Daniel G DG; Straub, Volker V