Linked Life Data

8884574

Source:http://linkedlifedata.com/resource/pubmed/id/8884574

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-1-30
pubmed:abstractText
We present here a report on a 5-year experience in clinical investigation, diagnostic management and molecular genetic studies of neuromitochondrial disorders, defined on the basis of morphological, biochemical and genetic findings. Leigh disease is the most frequent clinical presentation in infancy and childhood, but symptoms at onset are poorly informative. In paediatric cases, lactic acidosis and neuroradiological abnormalities are frequent, and can be of help for the diagnostic orientation. In the adult population, muscle weakness, ophthalmoplegia with ragged-red fibres, retinitis pigmentosa, progressive myoclonal ataxia, and early-onset stroke-like episodes, are frequently combined in complex syndromes that are often familial (maternally inherited) and/or associated with well-established mutations in mitochondrial DNA (mtDNA). However, the presence of overlap syndromes and features common to many neuromitochondrial diseases can complicate the clinical evaluation and the diagnostic approach. The pathogenicity of a given mtDNA mutation can frequently be ascertained by correlating the degree of heteroplasmy with the clinical or biochemical phenotypes. Moreover, transmitochondrial cybrids can be used to test the effects of either mitochondrial or nuclear gene abnormalities in a fully controlled, user-friendly and highly informative system.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
504-20
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Neurological presentations of mitochondrial diseases.
pubmed:affiliation
Division of Biochemistry & Genetics, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't