Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2-Reference-Cited by-同舟云学术

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Published:2015-03-18 Issue:1 Volume:24 Page:78-85
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

van den Boogaard Marlinde L,JFL Lemmers Richard,Camaño Pilar,van der Vliet Patrick J,Voermans Nicol,van Engelen Baziel GM,Lopez de Munain Adolfo,Tapscott Stephen J,van der Stoep Nienke,Tawil Rabi,van der Maarel Silvère M

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201555.pdf

Reference38 articles.

1. Deenen JC, Arnts H, van der Maarel SM et al: Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 2014; 83: 1056–1059.

2. Padberg GW, Lunt PW, Koch M, Fardeau M : Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1991; 1: 231–234.

3. Statland JM, Tawil R : Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol 2011; 24: 423–428.

4. de Greef JC, Lemmers RJ, Camano P et al: Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010; 75: 1548–1554.

5. van Overveld PG, Lemmers RJ, Sandkuijl LA et al: Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003; 35: 315–317.

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines;Clinical Genetics;2024-04-29

2. Updates on Facioscapulohumeral Muscular Dystrophy (FSHD);Current Treatment Options in Neurology;2024-04-02

3. SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action;Communications Biology;2023-06-28

4. Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments;International Journal of Molecular Sciences;2023-05-30

5. Preimplantation embryo gene expression: 56 years of discovery, and counting;Molecular Reproduction and Development;2023-02-22