Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome-Reference-Cited by-同舟云学术

Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

Published:2015-05-20 Issue:7 Volume:36 Page:679-683
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lemmers Richard J. L. F.¹,van den Boogaard Marlinde L.¹,van der Vliet Patrick J.¹,Donlin-Smith Colleen M.²,Nations Sharon P.³,Ruivenkamp Claudia A. L.⁴,Heard Patricia⁵,Bakker Bert⁴,Tapscott Stephen⁶,Cody Jannine D.⁵,Tawil Rabi²,van der Maarel Silvère M.¹

Affiliation:

1. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

2. Neuromuscular Disease Unit; Department of Neurology; University of Rochester Medical Center; Rochester New York

3. Department of Neurology; University of Texas Southwestern Medical Center; Dallas Texas

4. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

5. University of Texas Health Science Center at San Antonio; Chromosome 18 Research Center; San Antonio Texas

6. Division of Human Biology; Fred Hutchinson Cancer Research Center; Seattle Washington

Funder

Prinses Beatrix Spierfonds

Seventh Framework Programme

National Institutes of Health

Chromosome 18 Registry & Research Society

FSHD Global research foundation

Spieren voor Spieren

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22792/fullpdf

Reference23 articles.

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2. Clinical features of facioscapulohumeral muscular dystrophy 2;Greef;Neurology,2010

3. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome);Ferguson;J Med Genet,2005

4. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element;Gabriels;Gene,1999

5. DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy;Geng;Dev Cell,2012

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