Linked Life Data

10658169

Source:http://linkedlifedata.com/resource/pubmed/id/10658169

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-3-29
pubmed:abstractText
The metabolic myopathies are distinguished by extensive clinical and genetic heterogeneity within and between individual disorders. There are a number of explanations for the variability observed that go beyond single gene mutations or degrees of heteroplasmy in the case of mitochondrial DNA mutations. Some of the contributing factors include protein subunit interactions, tissue-specificity, modifying genetic factors, and environmental triggers. Advances in the molecular analysis of metabolic myopathies during the last decade have not only improved the diagnosis of individual disorders but also helped to characterize the contributing factors that make these disorders so complex.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0733-8619
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
53-104
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
The molecular diagnosis of metabolic myopathies.
pubmed:affiliation
Associate Professor, Departments of Pediatrics, Neurology, and Pathology, Division of Genetics, School of Medicine and Biomedical Studies, State University of New York at Buffalo, 14209, USA. gdv@acsu.buffalo.edu
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't