Article
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
BMC neurology - 17 Aug 2016
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
Abstract excerpt
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 individuals to severely affected patients with an early onset. An estimated 10% of FSHD patients have an early onset (onset...
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