Linked Life Data

9124815

Source:http://linkedlifedata.com/resource/pubmed/id/9124815

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-4-24
pubmed:abstractText
A significant proportion of patients with inborn errors of the mitochondrial respiratory chain exhibit movement disorders, particularly dystonia. Point mutations of mitochondrial DNA (mtDNA) are usually expressed systemically, and defects of platelet respiratory chain function have been described in patients with mtDNA mutations and Leber's hereditary optic neuropathy (LHON). Recent reports have documented families with dystonia in association with LHON and mtDNA complex I gene mutations. We have examined mitochondrial function in platelet mitochondria from patients with familial generalized dystonia (linked or not linked to 9q34) and sporadic focal dystonia. We confirm a previous report of a specific complex I defect in patients with sporadic focal dystonia but could not find any abnormality in patients with familial generalized dystonia, linked or not to 9q34. These results support the existence of a mitochondrial deficiency in sporadic focal dystonia and provide a biochemical dimension to the clinical and genetic distinction between focal and generalized familial dystonia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
556-9
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Complex I function in familial and sporadic dystonia.
pubmed:affiliation
Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't