|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1994-8-23
|
|
pubmed:abstractText |
Point mutations in the mitochondrial (mt) genome underlie a number of neurological disorders. Some are well defined including the myoclonus epilepsy ragged red fibre syndrome (MERRF) and the mitochondrial encephalopathy lactic acidosis stroke like episode syndrome (MELAS). However, other clinical phenotypes are less distinctive and mitochondrial studies are often included in the workup in complex neurological syndromes of uncertain aetiology.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
0004-8291
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
24
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
188-93
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:8042948-Adult,
pubmed-meshheading:8042948-DNA, Mitochondrial,
pubmed-meshheading:8042948-Deafness,
pubmed-meshheading:8042948-Female,
pubmed-meshheading:8042948-Gene Expression,
pubmed-meshheading:8042948-Genetic Variation,
pubmed-meshheading:8042948-Humans,
pubmed-meshheading:8042948-MELAS Syndrome,
pubmed-meshheading:8042948-Male,
pubmed-meshheading:8042948-Middle Aged,
pubmed-meshheading:8042948-Mitochondrial Encephalomyopathies,
pubmed-meshheading:8042948-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:8042948-Phenotype,
pubmed-meshheading:8042948-Point Mutation,
pubmed-meshheading:8042948-RNA, Transfer, Leu,
pubmed-meshheading:8042948-Restriction Mapping
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
|
|
pubmed:affiliation |
Melbourne Neuromuscular Research Centre, St Vincent's Hospital, Vic.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
