Article
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Neuromuscular disorders : NMD - 1 Jun 2004
Kroos Marian A, Kirschner Janbernd, Gellerich Frank N, Hermans Monique M P, Van Der Ploeg Ans T, Reuser Arnold J J, Korinthenberg Rudolf
Abstract excerpt
A six-year-old child presented at 8 months of age with proximal muscle weakness and mild cardiac hypertrophy. Some alpha-glucosidase activity was detected in muscle but not in fibroblasts. As none of the two pathogenic mutations, [c.1933G>A]+[c.2702T>A] (Asp645Asn/Leu901Gln), led to detectable alpha-glucosidase activity upon expression in COS cells, the phenotype of the patient remained unexplained. A...
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