Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism-Reference-Cited by-同舟云学术

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

Published:2018-05-19 Issue:7 Volume:39 Page:970-982
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tomé Stéphanie¹^ORCID,Dandelot Elodie¹,Dogan Céline²,Bertrand Alexis¹,Geneviève David³⁴,Péréon Yann⁵,Simon Marie³,Bonnefont Jean-Paul³,Bassez Guillaume⁶,Gourdon Geneviève¹,

Affiliation:

1. Laboratory CTGDM; Inserm UMR1163, Paris, France; Institut Imagine; Université Paris-Descartes-Sorbonne Paris-Cité; Paris France

2. Neuromuscular Reference Center; AP-HP; Hôpital Pitié-Salpêtrière; F-75013 Paris France

3. Molecular Genetic Laboratory; Necker Hospital; Paris France

4. Département de Génétique Médicale; Maladies Rares et Médecine Personnalisée; CHU Montpellier; Université Montpellier; Montpellier France

5. Centre for Neuromuscular Diseases; Hôtel-Dieu Hospital; Nantes France

6. Sorbonne Université; Inserm, UMRS974; Neuromuscular Reference center, AP-HP; Hôpital Pitié-Salpêtrière; F-75013 Paris France

Funder

Institut National de la Santé et de la Recherche Médicale

Université Paris Descartes

AFM-Téléthon

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference75 articles.

1. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy;Anvret;Human Molecular Genetics,1993

2. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy;Ashizawa;American Journal of Human Genetics,1994

3. Somatic instability of CTG repeat in myotonic dystrophy;Ashizawa;Neurology,1993

4. Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring;Ashizawa;Neurology,1994

5. Myotonic Dystrophies: An Overview

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