Article
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Human mutation - 1 Aug 2012
Kroos Marian, Hoogeveen-Westerveld Marianne, Michelakakis Helen, Pomponio Robert, Van der Ploeg Ans, Halley Dicky, Reuser Arnold
Abstract excerpt
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder, characterized by progressive muscle weakness. Deficiency of acid α-glucosidase (EC; 3.2.1.20/3) can be caused by numerous pathogenic variants in the GAA gene. The Pompe Disease Mutation Database at http://www.pompecenter.nl aims to list all variants and their effect. This update reports on 94 variants. We examined 35 novel and 34 known...
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