Linked Life Data

15803807

Source:http://linkedlifedata.com/resource/pubmed/id/15803807

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-4-4
pubmed:abstractText
Primary myoadenylate deaminase deficiency (MADD) is probably the most frequent inborn metabolic myopathy with a prevalence of up to 2%. It is the result of mutations in the AMPDI gene, the most common of which is a C34-T transition in exon 2. The importance of the more rare mutation G468-T in exon 5 is uncertain. Primary objective was to elucidate the clinical significance of the enzyme disorder, which remains unclear since its first description in 1978. We further examined the existence of an association of MADD with other muscle disorders, such as malignant hyperthermia and rhabdomyolysis, as was suspected in earlier studies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0722-5091
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
77-85
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.
pubmed:affiliation
Departments of Neuropathology,, University of Leipzig, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't