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rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
6
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pubmed:dateCreated |
2009-1-7
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pubmed:abstractText |
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. The aim of this study was to characterize the molecular and clinical spectra of DM1 in Koreans.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1598-6535
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
483-92
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pubmed:meshHeading |
pubmed-meshheading:19127114-Blotting, Southern,
pubmed-meshheading:19127114-Data Interpretation, Statistical,
pubmed-meshheading:19127114-Female,
pubmed-meshheading:19127114-Genotype,
pubmed-meshheading:19127114-Humans,
pubmed-meshheading:19127114-Korea,
pubmed-meshheading:19127114-Male,
pubmed-meshheading:19127114-Myotonic Dystrophy,
pubmed-meshheading:19127114-Pedigree,
pubmed-meshheading:19127114-Phenotype,
pubmed-meshheading:19127114-Polymerase Chain Reaction,
pubmed-meshheading:19127114-Protein-Serine-Threonine Kinases,
pubmed-meshheading:19127114-Retrospective Studies,
pubmed-meshheading:19127114-Trinucleotide Repeat Expansion
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pubmed:year |
2008
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pubmed:articleTitle |
Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
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pubmed:affiliation |
Department of Laboratory Medicine, Seoul National University College of Medicine and Seoul National University Hospital, Korea.
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pubmed:publicationType |
Journal Article
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