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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1995-11-13
|
| pubmed:abstractText |
We have analysed the [AGC] expansion in leucocytes, muscle and sperm from 17 individuals affected by myotonic dystrophy (DM). Skeletal muscle showed a larger repeat number than leucocytes in the same patient. A similar degree of expansion was detected in differently affected muscles of a single patient. The germline mutation (< or = 350 repeats) was expanded in somatic cells of the progeny in all patients examined. Our results provide evidence of an early postzygotic instability of the [AGC] repeat in DM.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0340-5354
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
242
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
379-83
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:7561966-Adolescent,
pubmed-meshheading:7561966-Adult,
pubmed-meshheading:7561966-Child,
pubmed-meshheading:7561966-Female,
pubmed-meshheading:7561966-Gene Amplification,
pubmed-meshheading:7561966-Humans,
pubmed-meshheading:7561966-Leukocytes,
pubmed-meshheading:7561966-Male,
pubmed-meshheading:7561966-Middle Aged,
pubmed-meshheading:7561966-Muscle, Skeletal,
pubmed-meshheading:7561966-Myotonic Dystrophy,
pubmed-meshheading:7561966-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:7561966-Spermatozoa,
pubmed-meshheading:7561966-Zygote
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm.
|
| pubmed:affiliation |
Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|