A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype-Reference-Cited by-同舟云学术

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

Published:2019-11-04 Issue:2 Volume:41 Page:420-431
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ballester‐Lopez Alfonsina¹²^ORCID,Koehorst Emma¹^ORCID,Almendrote Miriam¹³^ORCID,Martínez‐Piñeiro Alicia¹³^ORCID,Lucente Giuseppe¹³^ORCID,Linares‐Pardo Ian¹^ORCID,Núñez‐Manchón Judit¹^ORCID,Guanyabens Nicolau³^ORCID,Cano Antoni⁴,Lucia Alejandro⁵⁶^ORCID,Overend Gayle⁷^ORCID,Cumming Sarah A.⁷^ORCID,Monckton Darren G.⁷^ORCID,Casadevall Teresa⁸,Isern Irina⁹,Sánchez‐Ojanguren Josep⁹,Planas Albert¹⁰,Rodríguez‐Palmero Agustí¹¹¹^ORCID,Monlleó‐Neila Laura¹¹¹,Pintos‐Morell Guillem¹²¹²^ORCID,Ramos‐Fransi Alba¹³^ORCID,Coll‐Cantí Jaume¹²³^ORCID,Nogales‐Gadea Gisela¹²^ORCID

Affiliation:

1. Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can RutiUniversitat Autònoma de Barcelona Badalona Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Instituto de Salud Carlos III Madrid Spain

3. Neuromuscular Pathology Unit, Neurology Service, Neuroscience DepartmentHospital Universitari Germans Trias i Pujol Barcelona Spain

4. Neurology Unit, Neuroscience DepartmentHospital de Mataró Barcelona Spain

5. Universidad Europea (Faculty of Sport Sciences) Madrid Spain

6. Instituto de Investigación Hospital 12 de Octubre (i+12) Madrid Spain

7. Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life SciencesUniversity of Glasgow Glasgow UK

8. Neurology ServiceHospital Comarcal Sant Jaume de Calella Barcelona Spain

9. Unitat de NeurologiaHospital de l'Esperit Sant Barcelona Spain

10. Servei de medicina interna, Secció de neurologiaHospital Municipal de Badalona Barcelona Spain

11. Neuropediatric Unit, Pediatric ServiceHospital Universitari Germans Trias i Pujol Barcelona Spain

12. Division of Rare DiseasesUniversity Hospital Vall d'Hebron Barcelona Spain

Funder

AFM-Téléthon

“la Caixa” Foundation

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23932

Reference30 articles.

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

2. Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

3. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

4. Late presentation of myotonic dystrophy

5. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

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