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Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

INTRODUCTION: FacioScapuloHumeral Muscular Dystrophy (FSHD), a disease linked to a heterozygous D4Z4 deletion on chromosome 4q35, typically starts with shoulder-girdle and facial muscle involvement. Atypical presentations have occasionally been reported, but their frequency has still not been define...

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Detalles Bibliográficos
Autores principales: Pastorello, Ebe, Cao, Michelangelo, Trevisan, Carlo P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314982/
https://www.ncbi.nlm.nih.gov/pubmed/22079131
http://dx.doi.org/10.1016/j.clineuro.2011.10.022