Why the study?
Does a large gene deletion (smallest EcoRI fragments) correlate with severe clinical phenotypes like epilepsy and mental retardation in patients with 4q35-FSHD?
Population
91 Japanese unrelated families with a clinical diagnosis of facioscapulohumeral muscular dystrophy…
Comparison
Presence of the smallest EcoRI fragments… vs Remaining patients with 4q35-FSHD who did not…
Design
Cross-sectional
Authors
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Smallest EcoRI fragments may flag higher CNS complication risk in FSHD; leaves open validation and screening utility in prospective cohorts.
Does a large gene deletion (smallest EcoRI fragments) correlate with severe clinical phenotypes like epilepsy and mental retardation in patients with 4q35-FSHD?
In patients with 4q35-FSHD, a larger gene deletion (smallest EcoRI fragments) is strongly associated with early onset disease and severe CNS abnormalities including epilepsy and mental retardation.
Funakoshi et al. (1998) studied this question.