Linked Life Data

17376118

Source:http://linkedlifedata.com/resource/pubmed/id/17376118

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2007-3-22
pubmed:abstractText
Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders caused by defects in the mitochondrial genome (sporadic or maternally-inherited) from disorders caused by defects in the nuclear genome (autosomally-inherited). We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0001-6314
pubmed:author
pubmed:issnType
Print
pubmed:volume
115
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
211-21
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Mitochondrial diseases: a nosological update.
pubmed:affiliation
Neurological Clinic, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili of Brescia, Brescia, Italy. filosto@med.unibs.it
pubmed:publicationType
Journal Article, Review