Genotype-phenotype correlation in Pompe disease, a step forward
- 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, Serenella (ORCID:0000-0001-8478-2799)
- Siciliano, G
- Carlucci, A.
- Scotti, C
- Comelli, M
- Toscano, A
- Danesino, C.
Publication date
January 2014
DOI Publisher
Springer Science and Business Media LLC ISSN
1750-1172 Citation count (estimate)
17Abstract
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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