(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

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)...

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Veröffentlicht in:Biochemical medicine and metabolic biology 1993-08, Vol.50 (1), p.85-92
Hauptverfasser: Novelli, G., Gennarelli, M., Menegazzo, E., Mostacciuolo, M.L., Pizzuti, A., Fattorini, C., Tessarolo, D., Tomelleri, G., Giacanelli, M., Danieli, G.A., Rizzuto, N., Caskey, C.T., Angelini, C., Dallapiccola, B.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Alleles
Base Sequence
Child
DNA - analysis
DNA - metabolism
Female
Gene Amplification
Humans
Italy
Male
Middle Aged
Molecular Sequence Data
Muscle Proteins - genetics
Mutation
Myotonic Dystrophy - genetics
Myotonic Dystrophy - pathology
Myotonin-Protein Kinase
Phenotype
Protein Kinases - genetics
Protein Serine-Threonine Kinases
Repetitive Sequences, Nucleic Acid
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Beschreibung
Zusammenfassung: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.
ISSN:0885-4505
1557-7651
DOI:10.1006/bmmb.1993.1049