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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Foilsithe in:BMC Neurol
Main Authors: 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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2016
Ábhair:
Study Protocol
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4988042/
https://ncbi.nlm.nih.gov/pubmed/27530735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0664-6
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