Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability-Reference-Cited by-同舟云学术

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

Published:2014-12-30 Issue:1 Volume:36 Page:48-56
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Donkervoort Sandra¹,Hu Ying¹,Stojkovic Tanya²,Voermans Nicol C.³,Foley A. Reghan⁴,Leach Meganne E.¹⁵,Dastgir Jahannaz¹,Bolduc Véronique¹,Cullup Thomas⁶,de Becdelièvre Alix⁷,Yang Lin⁸,Su Hai⁸,Meilleur Katherine⁹,Schindler Alice B.¹,Kamsteeg Erik-Jan¹⁰,Richard Pascale⁷¹¹¹²,Butterfield Russell J.¹³,Winder Thomas L.¹⁴,Crawford Thomas O.¹⁵,Weiss Robert B.¹⁶,Muntoni Francesco⁴,Allamand Valérie¹⁷¹⁸¹⁹²⁰,Bönnemann Carsten G.¹

Affiliation:

1. National Institutes of Health; National Institute of Neurological Disorders and Stroke; Neurogenetics Branch; Neuromuscular and Neurogenetic Disorders of Childhood Section; Bethesda Maryland USA

2. AP-HP, Hôpitaux universitaires la Pitié-Salpêtrière-Charles Foix, Centre de Référence de Pathologie Neuromusculaire Paris Est; Paris France

3. Department of Neurology; Radboud university medical center; Nijmegen The Netherlands

4. Dubowitz Neuromuscular Centre; University College London Institute of Child Health and Great Ormond Street Hospital for Children; London UK

5. Children's National association: Children's National Health System; Washington DC

6. DNA Laboratory; GSTS Pathology; Guy's Hospital; London UK

7. AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix; U.F. Cardiogénétique et Myogénétique Moléculaire et Cellulaire; Service de Biochimie Métabolique; Paris France

8. Department of Biomedical Engineering; University of Florida; Gainesville Florida USA

9. National Institute of Nursing Research; Bethesda Maryland USA

10. Department of Human Genetics; Genome Diagnostics; Radboud university medical centre; Nijmegen The Netherlands

11. UMR_S 1166 Equipe Génomique et Physiopathologie des Maladies Cardiovasculaires; Paris France

12. UPMC; IFR14, Institute of Cardiometabolism and Nutrition; Paris France

13. Department of Neurology and Pediatrics; University of Utah; Salt Lake City Utah

14. Prevention Genetics; Marshfield Wisconsin

15. Department of Neurology; Johns Hopkins School of Medicine; Baltimore Maryland

16. Department of Human Genetics; University of Utah; Salt Lake City Utah USA

17. Sorbonne Universités; UPMC University; Paris UM76 France

18. Inserm; U974; Paris France

19. CNRS; UMR7215; Paris France

20. Institut de Myologie; Paris France

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22691/fullpdf

Reference26 articles.

1. Molecular consequences of dominant Bethlem myopathy collagen VI mutations;Baker;Ann Neurol,2007

2. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy;Baker;Hum Mol Genet,2005

3. siRNA-mediated allele-specific silencing of a COL6A3 mutation in a cellular model of dominant Ullrich muscular dystrophy;Bolduc;Mol Ther Nucleic Acids,2014

4. The collagen VI-related myopathies: muscle meets its matrix;Bonnemann;Nat Rev Neurol,2011

5. Muscle ultrasound in Bethlem myopathy;Bonnemann;Neuropediatrics,2003

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