Key result
In a family-based study of FSHD1, nonpenetrance was observed in 17% (12/69) of mutation carriers, lower than previously reported, likely due to careful clinical examination.
Population
150 participants including 10 FSHD1 probands carrying 4-9 D4Z4 unit alleles and 140 relatives
Design
Cross-sectional
Authors
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May improve FSHD1 carrier identification via thorough exams; leaves open prospective validation for counseling and trials.
Cross-Sectional (n=150)
No
Careful clinical examination reveals lower nonpenetrance of FSHD1 than previously estimated, highlighting the importance of identifying asymptomatic carriers for future trials.
Wohlgemuth et al. (2018) conducted a cross-sectional in facioscapulohumeral muscular dystrophy type 1 (n=150). FSHD1 mutation carrier status was evaluated on Nonpenetrance in mutation carriers. In a family-based study of FSHD1, nonpenetrance was observed in 17% (12/69) of mutation carriers, lower than previously reported, likely due to careful clinical examination.
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