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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1993-10-21
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pubmed:abstractText |
A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3' untranslated region of the myotonin-protein kinase gene (MT-PK) was found. These results suggest that the CTG amplification is directly related to the myotonic dystrophy phenotype and provide important information on morbidity and prognosis in this disease.
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0885-4505
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
85-92
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:8373638-Adolescent,
pubmed-meshheading:8373638-Adult,
pubmed-meshheading:8373638-Alleles,
pubmed-meshheading:8373638-Base Sequence,
pubmed-meshheading:8373638-Child,
pubmed-meshheading:8373638-DNA,
pubmed-meshheading:8373638-Female,
pubmed-meshheading:8373638-Gene Amplification,
pubmed-meshheading:8373638-Humans,
pubmed-meshheading:8373638-Italy,
pubmed-meshheading:8373638-Male,
pubmed-meshheading:8373638-Middle Aged,
pubmed-meshheading:8373638-Molecular Sequence Data,
pubmed-meshheading:8373638-Muscle Proteins,
pubmed-meshheading:8373638-Mutation,
pubmed-meshheading:8373638-Myotonic Dystrophy,
pubmed-meshheading:8373638-Phenotype,
pubmed-meshheading:8373638-Protein Kinases,
pubmed-meshheading:8373638-Protein-Serine-Threonine Kinases,
pubmed-meshheading:8373638-Repetitive Sequences, Nucleic Acid
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pubmed:year |
1993
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pubmed:articleTitle |
(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.
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pubmed:affiliation |
Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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