Linked Life Data

16967490

Source:http://linkedlifedata.com/resource/pubmed/id/16967490

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-1-24
pubmed:abstractText
Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
254-8
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
pubmed:affiliation
Division of Pediatric Neurology, Department of Neurology, University of Washington, Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA. tony.bouldin@seattlechildrens.org
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't