Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic indi...

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Detalles Bibliográficos
Autores principales: Goselink, Rianne J. M., Schreuder, Tim H. A., Mul, Karlien, Voermans, Nicol C., Pelsma, Maaike, de Groot, Imelda J. M., van Alfen, Nens, Franck, Bas, Theelen, Thomas, Lemmers, Richard J., Mah, Jean K., van der Maarel, Silvère M., van Engelen, Baziel G., Erasmus, Corrie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Study Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988042/
https://www.ncbi.nlm.nih.gov/pubmed/27530735
http://dx.doi.org/10.1186/s12883-016-0664-6

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