Fig. 1From: Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessTen distinct variants within GAA were identified as disease-causing. One variant was intronic and nine were exonic. Six patients were heterozygous for the intronic c.-32-13 T > G variant in addition to an exonic variant and two patients were heterozygous for two exonic variantsBack to article page