Literature DB >> 8373638

(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.

G Novelli1, M Gennarelli, E Menegazzo, M L Mostacciuolo, A Pizzuti, C Fattorini, D Tessarolo, G Tomelleri, M Giacanelli, G A Danieli.   

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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Year:  1993        PMID： 8373638     DOI： 10.1006/bmmb.1993.1049

Source DB:  PubMed          Journal:  Biochem Med Metab Biol        ISSN： 0885-4505


  13 in total

Review 1.  Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.

Authors:  P N Strong; B S Brewster
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

2.  MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Authors:  Vincent Huin; Francis Vasseur; Susanna Schraen-Maschke; Claire-Marie Dhaenens; Patrick Devos; Kathy Dupont; Nicolas Sergeant; Luc Buée; Arnaud Lacour; Hélène Hofmann-Radvanyi; Bernard Sablonnière
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

3.  De novo myotonic dystrophy mutation in a Nigerian kindred.

Authors:  R Krahe; M Eckhart; A O Ogunniyi; B O Osuntokun; M J Siciliano; T Ashizawa
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

4.  Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.

Authors:  F Rinaldi; A Botta; L Vallo; G Contino; A Morgante; R Iraci; C Catalli; G Silvestri; V M Ventriglia; L Politano; G Novelli
Journal:  Acta Myol       Date:  2008-12

5.  Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1.

Authors:  Luc Laberge; Benjamin Gallais; Julie Auclair; Yves Dauvilliers; Jean Mathieu; Cynthia Gagnon
Journal:  J Neurol       Date:  2019-10-31       Impact factor: 4.849

6.  Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy.

Authors:  I Mastrogiacomo; G Bonanni; E Menegazzo; C Santarossa; E Pagani; M Gennarelli; C Angelini
Journal:  Ital J Neurol Sci       Date:  1996-02

7.  Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm.

Authors:  A Massari; M Gennarelli; E Menegazzo; A Pizzuti; V Silani; I Mastrogiacomo; E Pagani; C Angelini; G Scarlato; G Novelli
Journal:  J Neurol       Date:  1995-06       Impact factor: 4.849

8.  Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.

Authors:  I Mastrogiacomo; E Pagani; G Novelli; C Angelini; M Gennarelli; E Menegazzo; G Bonanni; B Dallapiccola
Journal:  J Endocrinol Invest       Date:  1994-05       Impact factor: 4.256

9.  Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.

Authors:  T Ashizawa; M Anvret; M Baiget; J M Barceló; H Brunner; A M Cobo; B Dallapiccola; R G Fenwick; U Grandell; H Harley
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

10.  Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.

Authors:  A Massari; G Novelli; A Colosimo; F Sangiuolo; G Palka; G Calabrese; L Camurri; G Ghirardini; G Milani; C Giorlandino; G Gazzanelli; M Malatesta; C Romanini; B Dallapiccola
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132
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