Linked Life Data

16288872

Source:http://linkedlifedata.com/resource/pubmed/id/16288872

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2005-12-2
pubmed:abstractText
Mutations in the lamin A/C gene (LMNA) have been associated with neuromuscular diseases and more complex syndromes, involving bone and adipose tissue. We report on a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle. This case suggests there is a need to increase the list of genes to be screened in patients with myofibrillar myopathy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
847-50
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
pubmed:affiliation
Unit of Molecular Medicine and Pathology, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't