Population
41 families with dominantly inherited facioscapulohumeral muscular dystrophy, including over 500 family…
Design
Cross-sectional
Authors
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Limited CK sensitivity restricts presymptomatic FSHD detection in heterozygotes; leaves open optimal screening and phenotypic modifier studies.
Clinical presentation and CK levels vary widely in FSHD, limiting the utility of presymptomatic CK testing, though clinical data supports genetic homogeneity.
Lunt et al. (1991) studied this question.
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