Title: | Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study |
Journal : | Orphanet journal of rare diseases, 10 |
Authors: | Salort-Campana E ; Nguyen K ; Bernard R ; Jouve E ; Sole G ; Nadaj-Pakleza A ; Niederhauser J ; Charles E ; Ollagnon E ; Bouhour F ; Sacconi S ; Echaniz-Laguna A ; Desnuelle C ; Tranchant C ; Vial C ; Magdinier F ; Bartoli M ; Arne-Bes MC ; Ferrer X ; Kuntzer T ; Levy N ; Pouget J ; Attarian S |
Material Type: | Article |
Publication Date: | 2015 |
Languages: | English |
Keywords : | allelic heterogeneity ; cross-sectional study ; D4Z4 locus ; facioscapulohumeral muscular dystrophy ; multicenter studies ; penetrance ; phenotypes ; sex |
Pubmed / DOI : | DOI : 10.1186/s13023-014-0218-1 / Pubmed : 25603992 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25603992 |
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