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

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320820/
https://www.ncbi.nlm.nih.gov/pubmed/25603992
http://dx.doi.org/10.1186/s13023-014-0218-1

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