Article
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Journal of inherited metabolic disease - 1 Nov 2018
Semplicini Claudio, Letard Pascaline, De Antonio Marie, Taouagh Nadjib, Perniconi Barbara, Bouhour Françoise, Echaniz-Laguna Andoni, Orlikowski David, Sacconi Sabrina, Salort-Campana Emmanuelle, Solé Guilhem, Zagnoli Fabien, Hamroun Dalil, Froissart Roseline, Caillaud Catherine, Laforêt Pascal
Abstract excerpt
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 < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations...
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