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

G. Novelli; M. Gennarelli; E. Menegazzo; M. L. Mostacciuolo; A. Pizzuti; C. Fattorini; D. Tessarolo; G. Tomelleri; M. Giacanelli; G. A. Danieli; N. Rizzuto; C. T. Caskey; C. Angelini; B. Dallapiccola

doi:10.1006/bmmb.1993.1049

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

G. Novelli, M. Gennarelli, E. Menegazzo, M. L. Mostacciuolo, A. Pizzuti, C. Fattorini, D. Tessarolo, G. Tomelleri, M. Giacanelli, G. A. Danieli, N. Rizzuto, C. T. Caskey, C. Angelini, B. Dallapiccola

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	85-92
Number of pages	8
Journal	Biochemical Medicine and Metabolic Biology
Volume	50
Issue number	1
DOIs	https://doi.org/10.1006/bmmb.1993.1049
Publication status	Published - Aug 1993

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry

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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. (1993). (CTG)_n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients. Biochemical Medicine and Metabolic Biology, 50(1), 85-92. https://doi.org/10.1006/bmmb.1993.1049

(CTG)_n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients. / 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.

In: Biochemical Medicine and Metabolic Biology, Vol. 50, No. 1, 08.1993, p. 85-92.

Research output: Contribution to journal › Article › peer-review

Novelli, G, Gennarelli, M, Menegazzo, E, Mostacciuolo, ML, Pizzuti, A, Fattorini, C, Tessarolo, D, Tomelleri, G, Giacanelli, M, Danieli, GA, Rizzuto, N, Caskey, CT, Angelini, C & Dallapiccola, B 1993, '(CTG)_n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients', Biochemical Medicine and Metabolic Biology, vol. 50, no. 1, pp. 85-92. https://doi.org/10.1006/bmmb.1993.1049

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. / (CTG)_n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients. In: Biochemical Medicine and Metabolic Biology. 1993 ; Vol. 50, No. 1. pp. 85-92.

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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.",

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