Article
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Biochemical and biophysical research communications - 27 Mar 1998
Huie M L, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron D T, Bessley C, Shanske S, DiMauro S, Goto Y I, Hirschhorn R
Abstract excerpt
Glycogen storage disease type II (GSDII), an autosomal recessive myopathic disorder, results from deficiency of lysosomal acid alpha-glucosidase. We searched for mutations in an evolutionarily conserved region in 54 patients of differing phenotype. Four novel mutations (D645N, G448S, R672W, and R672Q) and a previously described mutation (C647W) were identified in five patients and their deleterious effect on...
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