Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuromuscul Disord. 2004 Jun;14(6):371-4.

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

Author information

1
Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, Rotterdam 3000 DR, The Netherlands.

Abstract

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 functionally comparable set of mutations, Asp645Asn/insGnt2243, was reported previously to cause classic infantile Pompe disease [Biochem Biophys Res Commun 244 (1998) 921]. We conclude that secondary genetic or environmental factors can be decisive for the phenotypic outcome of classic infantile versus childhood Pompe disease, when the acid alpha-glucosidase activity is extremely low.

PMID:
15145338
DOI:
10.1016/j.nmd.2004.02.012
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center