Literature DB >> 2330114

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada).

J Mathieu1, M De Braekeleer, C Prévost.   

Abstract

The prevalence of myotonic dystrophy (MyD) in the Saguenay-Lac-Saint-Jean (SLSJ) region (Quebec, Canada) is 30 to 60 times the world's prevalence. We identified 746 patients (673 still alive) distributed in 88 families. Using a population-based register of the SLSJ area and several marriage repositories from northeastern Quebec, we could trace back all patients to a couple who settled in "Nouvelle-France" in 1657. The MyD gene was then passed on over 10 to 14 generations. This genealogical reconstruction is a strong argument in favor of the genetic homogeneity of MyD in the SLSJ region.

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Year:  1990        PMID： 2330114     DOI： 10.1212/wnl.40.5.839

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  23 in total

1.  Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Authors:  Vania Yotova; Damian Labuda; Ewa Zietkiewicz; Dominik Gehl; Alan Lovell; Jean-François Lefebvre; Stéphane Bourgeois; Emilie Lemieux-Blanchard; Marcin Labuda; Hélène Vézina; Louis Houde; Marc Tremblay; Bruno Toupance; Evelyne Heyer; Thomas J Hudson; Claude Laberge
Journal:  Hum Genet       Date:  2005-05-10       Impact factor: 4.132

2.  Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.

Authors:  Gayle Overend; Cécilia Légaré; Jean Mathieu; Luigi Bouchard; Cynthia Gagnon; Darren G Monckton
Journal:  Hum Mol Genet       Date:  2019-07-01       Impact factor: 6.150

3.  Towards an integrative approach to the management of myotonic dystrophy type 1.

Authors:  Cynthia Gagnon; Luc Noreau; Richard T Moxley; Luc Laberge; Stéphane Jean; Louis Richer; Michel Perron; Suzanne Veillette; Jean Mathieu
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-04-20       Impact factor: 10.154

Review 4.  Daytime sleepiness and myotonic dystrophy.

Authors:  Luc Laberge; Cynthia Gagnon; Yves Dauvilliers
Journal:  Curr Neurol Neurosci Rep       Date:  2013-04       Impact factor: 5.081

5.  Frequency of myotonic dystrophy gene carriers in cataract patients.

Authors:  A M Cobo; J J Poza; A Blanco; A López de Munain; A Saénz; M Azpitarte; J Marchessi; J F Martí Massó
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

6.  Usefulness of clinical and electrocardiographic data for predicting adverse cardiac events in patients with myotonic dystrophy.

Authors:  Robert Breton; Jean Mathieu
Journal:  Can J Cardiol       Date:  2009-02       Impact factor: 5.223

7.  D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q.

Authors:  C Tsilfidis; A E MacKenzie; G Shutler; S Leblond; J Bailly; K Johnson; R Williamson; J Siegel-Bartelt; R G Korneluk; P Shelbourne
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

8.  Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Authors:  H G Brunner; H T Brüggenwirth; W Nillesen; G Jansen; B C Hamel; R L Hoppe; C E de Die; C J Höweler; B A van Oost; B Wieringa
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

9.  Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

Authors:  M R Passos-Bueno; A Cerqueira; M Vainzof; S K Marie; M Zatz
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

10.  Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene.

Authors:  Beatriz Llamusí; Ruben Artero
Journal:  Curr Genomics       Date:  2008-12       Impact factor: 2.236
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