Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Alleles
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Base Sequence
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Child
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DNA / analysis
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DNA / metabolism
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Female
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Gene Amplification
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Humans
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Italy
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Male
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Middle Aged
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Molecular Sequence Data
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Muscle Proteins / genetics
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Mutation*
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Myotonic Dystrophy / genetics*
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Myotonic Dystrophy / pathology
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Myotonin-Protein Kinase
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Phenotype*
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Protein Kinases / genetics
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Protein Serine-Threonine Kinases*
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Repetitive Sequences, Nucleic Acid
Substances
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DMPK protein, human
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Muscle Proteins
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DNA
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Protein Kinases
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Myotonin-Protein Kinase
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Protein Serine-Threonine Kinases