Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study-Reference-Cited by-同舟云学术

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Published:2015 Issue:1 Volume:10 Page:2
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Salort-Campana Emmanuelle,Nguyen Karine,Bernard Rafaelle,Jouve Elisabeth,Solé Guilhem,Nadaj-Pakleza Aleksandra,Niederhauser Julien,Charles Estelle,Ollagnon Elisabeth,Bouhour Françoise,Sacconi Sabrina,Echaniz-Laguna Andoni,Desnuelle Claude,Tranchant Christine,Vial Christophe,Magdinier Frederique,Bartoli Marc,Arne-Bes Marie-Christine,Ferrer Xavier,Kuntzer Thierry,Levy Nicolas,Pouget Jean,Attarian Shahram

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0218-1.pdf

Reference32 articles.

1. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

2. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

3. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

4. Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

5. A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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