Source:http://linkedlifedata.com/resource/pubmed/id/15145338
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2004-5-17
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0960-8966
|
| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2004 Elsevier B.V.
|
| pubmed:issnType |
Print
|
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
371-4
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:15145338-Amino Acid Substitution,
pubmed-meshheading:15145338-Animals,
pubmed-meshheading:15145338-Asparagine,
pubmed-meshheading:15145338-Aspartic Acid,
pubmed-meshheading:15145338-Blotting, Western,
pubmed-meshheading:15145338-COS Cells,
pubmed-meshheading:15145338-Cercopithecus aethiops,
pubmed-meshheading:15145338-DNA Mutational Analysis,
pubmed-meshheading:15145338-Echocardiography, Three-Dimensional,
pubmed-meshheading:15145338-Fibroblasts,
pubmed-meshheading:15145338-Glycogen Storage Disease Type II,
pubmed-meshheading:15145338-Humans,
pubmed-meshheading:15145338-Infant,
pubmed-meshheading:15145338-Male,
pubmed-meshheading:15145338-Muscles,
pubmed-meshheading:15145338-Mutation,
pubmed-meshheading:15145338-Phenotype,
pubmed-meshheading:15145338-Transfection,
pubmed-meshheading:15145338-alpha-Glucosidases
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
| pubmed:affiliation |
Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, Rotterdam 3000 DR, The Netherlands.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports
|