Why the study?
Does the size of the 4q35-associated deletion correlate with disease severity in Facioscapulohumeral muscular dystrophy, and is there evidence of genetic anticipation?
Population
Patients with clinically and genetically well-defined Facioscapulohumeral muscular dystrophy (FSHD)
Design
Cross-sectional
Authors
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May inform genetic counseling on FSHD severity; leaves open prospective validation of anticipation.
Does the size of the 4q35-associated deletion correlate with disease severity in Facioscapulohumeral muscular dystrophy, and is there evidence of genetic anticipation?
Disease severity in Facioscapulohumeral muscular dystrophy strongly correlates with the size of the 4q35-associated deletion, and generational worsening suggests genetic anticipation.
Tawil et al. (1996) studied this question.
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