Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F12%3A00060653" target="_blank" >RIV/00216224:14110/12:00060653 - isvavai.cz</a>
Alternative codes found
RIV/68081707:_____/12:00389807
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy
Original language description
Development of the pathological phenotype in patients with myotonic dystrophy (MD1) largely depends on toxic effects of expanded DMPK gene repeats (CUG(exp)) transcription and their interaction with binding proteins. The relationship between DMPK CUG(exp), MBNL1 and MBNL2 has so far been studied on tissue cultures (myoblast cell lines) and transgenic animals. In this report, the first in situ molecular genetic analysis of fetal tissue from a family affected by MD1 is presented. Intrauterine development,maturation and differentiation of skeletal muscles of the fetus (360 g, 22nd week of pregnancy) were only slightly delayed. In the fetus, paternally inherited expansion of the CTG repeat in the DMPK gene (350 CTG) was confirmed by molecular analysis. Subsequent histopathological examination revealed signs of myotonic dystrophy.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Česká a slovenská neurologie a neurochirurgie
ISSN
1210-7859
e-ISSN
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Volume of the periodical
75
Issue of the periodical within the volume
6
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
7
Pages from-to
730-736
UT code for WoS article
000311242700009
EID of the result in the Scopus database
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