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Clinically affected;cardiomegaly;macroglossia;hepatomegaly;hypotonia;died before one year of age;alpha glucosidase activity = 2.9 ug/mg prot/hr (normal = 137.1 to 1025.9);donor subject is homozygous for a C>G transversion at nucleotide 1941 in exon 14 of the GAA gene 1941C>G resulting in a substitution of tryptophan for cysteine at codon 647 Cys647Trp(C647W) .
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