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A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

11 Jul 2018

Abstract excerpt

OBJECTIVE: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype-genotype correlations. METHODS: Ten FSHD1 probands carrying 4-9 D4Z4 unit alleles and 140 relatives were examined. All 150 participants were genetically characterized, including D4Z4 methylation levels in the...

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PMID: 29997197
DOI: 10.1212/wnl.0000000000005915

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