Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report-Reference-Cited by-同舟云学术

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Published:2016-09-15 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Gaillard Marie-Cécile,Puppo Francesca,Roche Stéphane,Dion Camille,Campana Emmanuelle Salort,Mariot Virginie,Chaix Charlene,Vovan Catherine,Mazaleyrat Killian,Tasmadjian Armand,Bernard Rafaelle,Dumonceaux Julie,Attarian Shahram,Lévy Nicolas,Nguyen Karine,Magdinier Frédérique,Bartoli Marc

Funder

AFM-Téléthon

Agence Nationale de la Recherche

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0328-9.pdf

Reference33 articles.

1. Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009;75(6):550–5. doi: 10.1111/j.1399-0004.2009.01158.x .

2. Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014;83(12):1056–9. doi: 10.1212/WNL.0000000000000797 .