Linked Life Data

12031624

Source:http://linkedlifedata.com/resource/pubmed/id/12031624

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2002-5-28
pubmed:abstractText
We report two new mutations in the myophosphorylase gene (PYGM) in two unrelated Italian patients with myophosphorylase deficiency (McArdle's disease). In one, we identified a missense C-to-T mutation at codon 269 in exon 7, changing CGA (arginine) to TGA (stop codon) (R269X). The second patient carried a G-to-C mutation, changing GCT (alanine) to CCT (proline) at codon 686 (A686P) in exon 17. Both were compound heterozygous, with the common mutation at codon 49 (R49X) on the other allele. Our data further expand the genetic heterogeneity in patients with McArdle's disease, suggesting that the possibility of novel mutations has to be taken into account when performing genetic analysis in distinct ethnic groups.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
498-500
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
pubmed:affiliation
Neuromuscular Diseases Unit, Department of Pediatrics, Giannina Gaslini Institute, University of Genova, Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't