Article
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.
Clinical genetics - 1 Dec 2018
Mul Karlien, Voermans Nicol C, Lemmers Richard J L F, Jonker Marianne A, van der Vliet Patrick J, Padberg George W, van Engelen Baziel G M, van der Maarel Silvère M, Horlings Corinne G C
Abstract excerpt
To determine how much of the clinical variability in facioscapulohumeral muscular dystrophy type 1 (FSHD1) can be explained by the D4Z4 repeat array size, D4Z4 methylation and familial factors, we included 152 carriers of an FSHD1 allele (23 single cases, 129 familial cases from 37 families) and performed state-of-the-art genetic testing, extensive clinical evaluation and quantitative muscle MRI. Familial factors...
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