Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.
De Filippi, P., Saeidi, K., Ravaglia, S., Dardis, A., Angelini, C., Mongini, T., Morandi, L., Moggio, M., Di Muzio, A., Filosto, M., Bembi, B., Giannini, F., Marrosu, G., Rigoldi, M., Tonin, P., Servidei, S., Siciliano, G., Carlucci, A., Scotti, C., Comelli, M., Toscano, A., Danesino, C., Genotype-phenotype correlation in Pompe disease, a step forward, <<ORPHANET JOURNAL OF RARE DISEASES>>, 2014; 9 (Agosto): 102-N/A. [doi:10.1186/s13023-014-0102-z] [http://hdl.handle.net/10807/62807]
Genotype-phenotype correlation in Pompe disease, a step forward
Servidei, Serenella;
2014
Abstract
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.
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