Linked Life Data

12507416

Source:http://linkedlifedata.com/resource/pubmed/id/12507416

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-12-31
pubmed:abstractText
The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical phenotype. Despite this clinical homogeneity, at least 15 different genetic forms of LGMD are now known. Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the dystrophinopathies (Duchenne and Becker muscular dystrophy). Some are allelic with other forms of muscular dystrophy; LGMD 1B is allelic with autosomal dominant Emery-Dreifuss muscular dystrophy. Still others introduce totally unique pathogenetic mechanisms to the study of muscular dystrophy. For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1528-4042
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
78-85
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Limb-girdle muscular dystrophy.
pubmed:affiliation
Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA. katherine-mathews@uiowa.edu
pubmed:publicationType
Journal Article, Review