Linked Life Data

18031759

Source:http://linkedlifedata.com/resource/pubmed/id/18031759

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2008-3-24
pubmed:abstractText
A six year old boy presented with classical features of Duchenne Muscular Dystrophy (DMD) and was confirmed by absent dystrophin staining on muscle biopsy. In the paternal line there were 5 affected individuals across two generations with classical DMD. There was no family history of the illness in the maternal line. Molecular genetics analysis by PCR of the exons showed a deletion in exon 45 in two affected individuals. Microsatellite analysis showed that though the deletion was observed in the same locus in exon 45 it is a new independent mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
268
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
179-82
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India.
pubmed:affiliation
Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't