Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
- Author
- LEMMERS, Richard J. L. F1 ; TAWIL, Rabi2 ; KROM, Yvonne D1 ; KLOOSTER, Rinse1 ; YU SUN1 ; DEN DUNNEN, Johan T1 4 ; HELMER, Quinta5 ; DONLIN-SMITH, Colleen M2 ; PADBERG, George W6 ; VAN ENGELEN, Baziel G. M6 ; DE GREEF, Jessica C1 ; AARTSMA-RUS, Annemieke M1 ; PETEK, Lisa M3 ; FRANTS, Rune R1 ; DE VISSER, Marianne7 ; DESNUELLE, Claude8 9 ; SACCONI, Sabrina8 9 ; FILIPPOVA, Galina N10 ; BAKKER, Bert4 ; BAMSHAD, Michael J11 3 ; TAPSCOTT, Stephen J10 ; MILLER, Daniel G11 3 ; VAN DER MAAREL, Silvere M1 ; BALOG, Judit1 ; BLOCK, Gregory J3 ; SANTEN, Gijs W. E4 ; AMELL, Amanda M3 ; VAN DER VLIET, Patrick J1 ; ALMOMANI, Rowida4 ; STRAASHEIJM, Kirsten R1
[1] Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands
[2] Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York, United States
[3] Department of Pediatrics, University of Washington, Seattle, Washington, United States
[4] Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
[5] Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, Netherlands
[6] Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[7] Department of Neurology, Academic Medical Center, Amsterdam, Netherlands
[8] Centre de Reference des Maladies Neuromusculaires, Nice University Hospital, Nice, France
[9] Centre National de la Recherche Scientifique (CNRS) Unite Mixte de Recherche (UMR) 7277, Nice University Hospital, Nice, France
[10] Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States
[11] Department of Genome Sciences, University of Washington, Seattle, Washington, United States - Source
Nature genetics. 2012, Vol 44, Num 12, pp 1370-1374, 5 p ; ref : 42 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Dystrophie musculaire Facioscapulohuméral Hérédité Mutation Maladie héréditaire Pathologie du système nerveux Pathologie neuromusculaire
- Keyword (en)
- Allele Muscular dystrophy Facioscapulohumeral Inheritance(genetics) Mutation Genetic disease Nervous system diseases Neuromuscular diseases
- Keyword (es)
- Alelo Distrofia muscular Facioescapulohumeral Herencia(genética) Mutación Enfermedad hereditaria Sistema nervioso patología Neuromuscular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26701586
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng.2454 
https://dx.doi.org/10.1038/ng.2454
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