Linked Life Data

21484336

Source:http://linkedlifedata.com/resource/pubmed/id/21484336

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-5-12
pubmed:abstractText
Over the past decade, the enigmatic pathogenic mechanisms of the most common forms of muscular dystrophy have been defined. In this report, the molecular defects for each of these disorders are fully described, demonstrating the potential for therapeutic intervention. In facioscapulohumeral muscular dystrophy, recent findings implicate a stabilized DUX4 transcript within the contracted D4Z4 repeats, opening the door for an RNA interference treatment strategy. In the myotonic dystrophies (dystrophica myotonia [DM]), two variants of the disease (DM1 and DM2) are caused by unrelated genes yet manifest overlapping phenotypes. The common mechanism is a splicing disorder related to RNA toxicity. Duchenne muscular dystrophy is the most common childhood form of muscular dystrophy. In many ways, the molecular gene defects are the most traditional. Gene repair strategies have advanced to the level of clinical testing, and we hope they will provide relief for this most devastating form of muscular dystrophy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1534-6307
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
199-207
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches.
pubmed:affiliation
The Research Institute at Nationwide Children's Hospital, Departments of Pediatrics and Neurology, Ohio State University, 700 Children's Drive, Room WA3024, Columbus, OH 43205, USA. zarife.sahenk@nationwidechildrens.org
pubmed:publicationType
Journal Article, Review