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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Elsevier
2012
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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 |