|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1997-10-31
|
|
pubmed:abstractText |
We analyzed the percentage of mitochondrial DNA (mtDNA) heteroplasmy in blood samples of 13 individuals belonging to a three family generation of myoclonic epilepsy with ragged-red fibers (MERRF) and compared the 5 affected patients and the 8 unaffected relatives.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0001-6314
|
|
pubmed:author |
pubmed-author:ArenasJJ,
pubmed-author:ArpaJJ,
pubmed-author:BarreiroPP,
pubmed-author:CamposYY,
pubmed-author:Cruz-MartínezAA,
pubmed-author:Gutiérrez-MolinaMM,
pubmed-author:López-PajaresRR,
pubmed-author:LacasaTT,
pubmed-author:Martin-CasanuevaM AMA,
pubmed-author:MoralesM CMC,
pubmed-author:Pérez-CondeM CMC,
pubmed-author:TataiZZ
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
96
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
65-71
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:9272179-Adult,
pubmed-meshheading:9272179-Age of Onset,
pubmed-meshheading:9272179-Creatine Kinase,
pubmed-meshheading:9272179-DNA, Mitochondrial,
pubmed-meshheading:9272179-Disease Progression,
pubmed-meshheading:9272179-Female,
pubmed-meshheading:9272179-Gene Dosage,
pubmed-meshheading:9272179-Genetic Variation,
pubmed-meshheading:9272179-Humans,
pubmed-meshheading:9272179-Lactic Acid,
pubmed-meshheading:9272179-MERRF Syndrome,
pubmed-meshheading:9272179-Male,
pubmed-meshheading:9272179-Middle Aged,
pubmed-meshheading:9272179-Mitochondria,
pubmed-meshheading:9272179-Muscle, Skeletal,
pubmed-meshheading:9272179-Nervous System,
pubmed-meshheading:9272179-Pedigree,
pubmed-meshheading:9272179-Phenotype,
pubmed-meshheading:9272179-Point Mutation,
pubmed-meshheading:9272179-Severity of Illness Index
|
|
pubmed:year |
1997
|
|
pubmed:articleTitle |
Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF).
|
|
pubmed:affiliation |
Department of Neurology, Hospital La Paz, Madrid, Spain.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
