Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset G mutation was detected in 151/170 index cases. Other frequent mutations included the exo... View More