Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohume...
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
About this item
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Author / Creator
Lemmers, Richard J L F , Tawil, Rabi , Petek, Lisa M , Balog, Judit , Block, Gregory J , Santen, Gijs W E , Amell, Amanda M , van der Vliet, Patrick J , Almomani, Rowida , Straasheijm, Kirsten R , Krom, Yvonne D , Klooster, Rinse , Sun, Yu , den Dunnen, Johan T , Helmer, Quinta , Donlin-Smith, Colleen M , Padberg, George W , van Engelen, Baziel G M , de Greef, Jessica C , Aartsma-Rus, Annemieke M , Frants, Rune R , de Visser, Marianne , Desnuelle, Claude , Sacconi, Sabrina , Filippova, Galina N , Bakker, Bert , Bamshad, Michael J , Tapscott, Stephen J , Miller, Daniel G and van der Maarel, Silvère M
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in
SMCHD1
and a chromosome 4 haplotype permissive for
DUX4
mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2.
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macr...
Alternative Titles
Full title
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Authors, Artists and Contributors
Author / Creator
Tawil, Rabi
Petek, Lisa M
Balog, Judit
Block, Gregory J
Santen, Gijs W E
Amell, Amanda M
van der Vliet, Patrick J
Almomani, Rowida
Straasheijm, Kirsten R
Krom, Yvonne D
Klooster, Rinse
Sun, Yu
den Dunnen, Johan T
Helmer, Quinta
Donlin-Smith, Colleen M
Padberg, George W
van Engelen, Baziel G M
de Greef, Jessica C
Aartsma-Rus, Annemieke M
Frants, Rune R
de Visser, Marianne
Desnuelle, Claude
Sacconi, Sabrina
Filippova, Galina N
Bakker, Bert
Bamshad, Michael J
Tapscott, Stephen J
Miller, Daniel G
van der Maarel, Silvère M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3671095
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3671095
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2454
